المؤلفون: Hobbiebrunken, E, Lorenz, H, Abicht, A, Schwaibold, EMC, Hell, A, Willichowski, E

المصدر: Nervenheilkunde; May 2019, Vol. 38 Issue: 5

المؤلفون: Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa., Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany., Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany., Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany., Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Basin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany., Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany., Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany., Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany., Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany., Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany., Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany., Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany., Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Mirza-Schreiber N; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany., Schatz U; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krenn M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Neurology, Medical University of Vienna, Wien, Austria., Makowski C; Department of Paediatrics, Adolescent Medicine and Neonatology, München, Germany., Weigand H; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Schröder S; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Rohlfs M; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Vill K; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Hauck F; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Borggraefe I; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kehrer M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Demidov G; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beck-Wödl S; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Graessner H; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Sturm M; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Zeltner L; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Schöls LJ; Department of Neurology, University of Tübingen, Tübingen, Germany., Magg J; Center for Rare Diseases, University of Tübingen, Tübingen, Germany., Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany., Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany., Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany., Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany., Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de., Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

المصدر: Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1644-1653. Date of Electronic Publication: 2024 Jul 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , High-Throughput Nucleotide Sequencing*/methods, Humans ; Female ; Male ; Child ; Germany ; Exome Sequencing/methods ; Adolescent ; Genetic Association Studies/methods ; Genetic Testing/methods ; Child, Preschool ; Prospective Studies ; Adult ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/diagnosis ; Infant ; Young Adult

المؤلفون: Gippert S; Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany., Berruti R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany and Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany., Hoffmann GF; Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany., Bettendorf M; Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany., Choukair D; Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany. daniela.choukair@med.uni-heidelberg.de.

المصدر: Endocrine [Endocrine] 2024 Jul; Vol. 85 (1), pp. 444-453. Date of Electronic Publication: 2023 Nov 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE

مواضيع طبية MeSH: Endocrine System Diseases*/genetics , Endocrine System Diseases*/diagnosis , Exome Sequencing*/methods, Humans ; Child ; Male ; Female ; Child, Preschool ; Adolescent ; Cohort Studies ; Infant ; Chronic Disease ; Exome/genetics ; Genetic Testing/methods

المؤلفون: Bertlich I; Department of Dermatology, University of Heidelberg, Heidelberg, Germany., Bidier M; Department of Dermatology, University of Heidelberg, Heidelberg, Germany., Schulz T; Institute of Pathology, Klinikum Bayreuth GmbH, Bayreuth, Germany., Kazakov DV; IDP Institute for Dermatohistopathology, Pathology Institute Enge, Zurich, Switzerland., Schwaibold EMC; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Hartschuh W; Department of Dermatology, University of Heidelberg, Heidelberg, Germany.

المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2024 Mar; Vol. 22 (3), pp. 434-437. Date of Electronic Publication: 2024 Jan 10.

نوع المنشور: Letter

بيانات الدورية: Publisher: Blackwell Country of Publication: Germany NLM ID: 101164708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1610-0387 (Electronic) Linking ISSN: 16100379 NLM ISO Abbreviation: J Dtsch Dermatol Ges Subsets: MEDLINE

مواضيع طبية MeSH: Scleromyxedema*/diagnosis , Granuloma Annulare*, Humans ; Diagnosis, Differential

المؤلفون: Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jan 09. Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany Amelie.Mueller@med.uni-tuebingen.de., Klein W; genetikum Stuttgart, Stuttgart, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schmidt C; genetikum Neu-Ulm, Neu-Ulm, Germany., Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Prodan N; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Park J; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Kelemen O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Hartmann S; genetikum Neu-Ulm, Neu-Ulm, Germany., Horn D; Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Emmerich D; Practice for Ultrasound and Prenatal Medicine, Freiburg, Germany., Hirt N; Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany., Neumann A; Practice for Prenatal Medicine, Bremen, Germany., Kristiansen G; Institute of Pathology, Center for Integrated Oncology, University of Bonn, Bonn, Germany., Gembruch U; Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany., Haen S; Institute of Pathology and Neuropathology, University of Tuebingen, Tuebingen, Germany., Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany., Hentze S; Practice for Human Genetics, Heidelberg, Germany., Hoopmann M; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Gläser D; genetikum Neu-Ulm, Neu-Ulm, Germany., Tekesin I; Prenatal Medicine Stuttgart, Stuttgart, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Kagan KO; Department of Women's Health, University Women's Hospital, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.; Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

المصدر: Journal of medical genetics [J Med Genet] 2023 Jan; Vol. 60 (1), pp. 48-56. Date of Electronic Publication: 2021 Nov 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Arthrogryposis*/pathology, Humans ; Animals ; Swine ; Mutation/genetics ; Loss of Heterozygosity ; Fetus ; Phenotype ; Pedigree ; Kinesins/genetics

المؤلفون: Calhoun JD; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Aziz MC; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Happ HC; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Gunti J; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Gleason C; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Mohamed N; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Zeng K; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Hiller M; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Bryant E; Ann and Robert H. Lurie Children's Hospital of Chicago Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA., Mithal DS; Ann and Robert H. Lurie Children's Hospital of Chicago Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA., Bellinski I; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Kinsley L; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Grimmel M; Ann & Robert H. Lurie Children's Hospital of Chicago, Department of Pediatrics, Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg 69120, Germany., Smith-Hicks C; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Scala M; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Torella A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, H4A 3J1, Canada., Striano P; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy., Capra V; Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy.; Medical Genetic Unit, IRCCS Istituto G.Gaslini, 16147 Genoa, Italy., Bird LM; Department of Human Genetics, McGill University, Montreal, QC, Canada., Ben-Sahra I; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, NA 80078, Italy., Ekhilevich N; San Diego Department of Pediatrics and Rady Children's Hospital Division of Dysmorphology/Genetics, University of California, San Diego, CA 92161, USA., Hershkovitz T; San Diego Department of Pediatrics and Rady Children's Hospital Division of Dysmorphology/Genetics, University of California, San Diego, CA 92161, USA.; Department of Biochemistry and Molecular Genetics, Northwestern Feinberg School of Medicine, Chicago, IL 60610, USA., Weiss K; San Diego Department of Pediatrics and Rady Children's Hospital Division of Dysmorphology/Genetics, University of California, San Diego, CA 92161, USA.; Department of Biochemistry and Molecular Genetics, Northwestern Feinberg School of Medicine, Chicago, IL 60610, USA., Millichap J; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.; Ann and Robert H. Lurie Children's Hospital of Chicago Epilepsy Center and Division of Neurology, Chicago, IL 60610, USA., Gerard EE; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.; Genetics Institute, Rambam Medical Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3200003, Israel.

المصدر: Brain : a journal of neurology [Brain] 2022 Jun 30; Vol. 145 (6), pp. 1939-1948.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Partial* , Epilepsy*/genetics , Megalencephaly*/genetics, Humans ; Mechanistic Target of Rapamycin Complex 1/genetics ; Nerve Tissue Proteins/genetics ; Tumor Suppressor Proteins/genetics

المؤلفون: van der Spek J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., den Hoed J; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Schijven D; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, United Kingdom; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom., Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL., Beck-Wödl S; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Brunet T; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, Maastricht University, Maastricht, The Netherlands., Campeau PM; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Haack TB; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lovrecic L; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Magg J; Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen, Germany., Maver A; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Miranda V; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Monteil DC; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pais LS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Plaiasu V; INSMC Alessandrescu-Rusescu, Regional Center of Medical Genetics Bucharest, Bucharest, Romania., Raiti L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Richmond C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Genetic Health Queensland, Royal Brisbane and Women's hospital, Herston, Queensland, Australia; School of Medicine, Griffith University, Southport, Queensland, Australia., Rieß A; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Spranger S; Praxis für Humangenetik-Bremen, Bremen, Germany., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Francks C; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Fisher SE; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. Electronic address: Tjitske.Kleefstra@radboudumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1283-1296. Date of Electronic Publication: 2022 Mar 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: DNA Helicases*/genetics , Mi-2 Nucleosome Remodeling and Deacetylase Complex*/genetics , Neurodevelopmental Disorders*/genetics, Heterozygote ; Humans ; Phenotype ; Syndrome

المؤلفون: Gabriel H; Praxis für Humangenetik Tübingen, Tübingen, Germany., Korinth D; Praxis für Humangenetik Tübingen, Tübingen, Germany., Ritthaler M; Praxis für Humangenetik Tübingen, Tübingen, Germany., Schulte B; Praxis für Humangenetik Tübingen, Tübingen, Germany., Battke F; CeGaT GmbH, Tübingen, Germany., von Kaisenberg C; Klinik für Frauenheilkunde und Geburtshilfe, Medizinische Hochschule Hannover, Hannover, Germany., Wüstemann M; Zentrum für Pränatalmedizin Hannover, Hannover, Germany., Schulze B; Medicover Humangenetik Hannover, Hannover, Germany., Friedrich-Freksa A; Institut für Klinische Genetik Mainz, Mainz, Germany., Pfeiffer L; Medicover Humangenetik Berlin-Lichtenberg, Berlin, Germany., Entezami M; Zentrum für Pränataldiagnostik, Berlin, Germany., Schröer A; Zentrum für Pränataldiagnostik, Berlin, Germany., Bürger J; Limbach Humangenetik Berlin, Berlin, Germany., Schwaibold EMC; Institut für Humangenetik, Universitätsklinikum Heidelberg, Heidelberg, Germany., Lebek H; Pränatale Diagnostik Berlin-Lichtenberg, Berlin, Germany., Biskup S; Praxis für Humangenetik Tübingen, Tübingen, Germany.; CeGaT GmbH, Tübingen, Germany.

المصدر: Prenatal diagnosis [Prenat Diagn] 2022 Jun; Vol. 42 (7), pp. 845-851. Date of Electronic Publication: 2021 Dec 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Ultrasonography, Prenatal*, Female ; Fetus/diagnostic imaging ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; Exome Sequencing

المؤلفون: Mirza-Schreiber N; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Neurogenetic Systems Analysis Group, Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Zech M; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Wilson R; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Brunet T; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Wagner M; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, 121 08 Prague, Czech Republic., Boesch S; Department of Neurology, Medizinische Universität, 6020 Insbruck, Austria., Škorvánek M; Department of Neurology, P. J. Safarik University, 04011 Kosice, Slovakia.; Department of Neurology, University Hospital L. Pasteur, 04011 Kosice, Slovakia., Necpál J; Department of Neurology, Zvolen Hospital, 96001 Zvolen, Slovakia., Weise D; Department of Neurology, Asklepios Fachklinikum Stadtroda, 07646 Stadtroda, Germany.; Department of Neurology, University of Leipzig, 04103 Leipzig, Germany., Weber S; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; University Medical Center Goettingen, Department of Neurology, Paracelsus-Elena-Klinik, 34128 Kassel, Germany., Mollenhauer B; University Medical Center Goettingen, Department of Neurology, Paracelsus-Elena-Klinik, 34128 Kassel, Germany., Trenkwalder C; University Medical Center Goettingen, Department of Neurology, Paracelsus-Elena-Klinik, 34128 Kassel, Germany., Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Borggraefe I; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Vill K; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, 80337 Munich, Germany., Hackenberg A; Department of Pediatric Neurology, University Children's Hospital, 8032 Zürich, Switzerland., Pilshofer V; Ordensklinikum Linz, Barmherzige Schwestern, 4010 Linz, Austria., Kotzaeridou U; Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany., Hoefele J; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Waldenberger M; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Gieger C; Research Unit Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany., Peters A; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany.; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Chair of Epidemiology, Institute for Medical Information Processing, Biometry and Epidemiology, Medical Faculty, Ludwig-Maximilians-Universität München, 81377 Munich, Germany., Meitinger T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Schormair B; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany., Winkelmann J; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Chair of Neurogenetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany., Oexle K; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Neurogenetic Systems Analysis Group, Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.

المصدر: Brain : a journal of neurology [Brain] 2022 Apr 18; Vol. 145 (2), pp. 644-654.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Dystonia*/genetics , Dystonia*/therapy , Dystonic Disorders*/genetics , Dystonic Disorders*/therapy, Biomarkers ; DNA Methylation/genetics ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Mutation