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المؤلفون: Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom., Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy., Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy., Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom., Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA., Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA., Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.

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: Autism Spectrum Disorder*/diagnosis , Autism Spectrum Disorder*/genetics , Brain Diseases* , Intellectual Disability* , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/genetics, Brain ; Disks Large Homolog 4 Protein/genetics ; Humans ; Phenotype

المؤلفون: Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California, USA. bryce.mendelsohn@ucsf.edu., Sabbadini M; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 762. Date of Electronic Publication: 2018 Jul 27.

نوع المنشور: Letter; Comment

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: Exome*, Congenital Hypothyroidism/*genetics, Facies ; Humans

المؤلفون: Scott AI; Stanford University School of Medicine, Department of Pathology, 300 Pasteur Dr., Stanford, CA 94305-5324, United States. Electronic address: annae@stanford.edu., Mendelsohn BA; University of California, San Francisco Department of Pediatrics, 550 16th Street, San Francisco, CA 94143, United States., Le A; Stanford University School of Medicine, Department of Pathology, 300 Pasteur Dr., Stanford, CA 94305-5324, United States., Cowan TM; Stanford University School of Medicine, Department of Pathology, 300 Pasteur Dr., Stanford, CA 94305-5324, United States.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2016 May 01; Vol. 456, pp. 149-150. Date of Electronic Publication: 2016 Mar 04.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Artifacts*, Amino Acids/*blood , Anti-Bacterial Agents/*blood , Blood Chemical Analysis/*methods , Cephalosporins/*blood , Chromatography, Ion Exchange/*methods, Adolescent ; Adult ; Cefepime ; Female ; Humans ; Middle Aged

المؤلفون: Mendelsohn BA; Departments of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Malone JP, Townsend RR, Gitlin JD

المصدر: Comparative biochemistry and physiology. Part D, Genomics & proteomics [Comp Biochem Physiol Part D Genomics Proteomics] 2009 Mar; Vol. 4 (1), pp. 21-31. Date of Electronic Publication: 2008 Oct 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101270611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0407 (Electronic) Linking ISSN: 1744117X NLM ISO Abbreviation: Comp Biochem Physiol Part D Genomics Proteomics Subsets: PubMed not MEDLINE

المؤلفون: Gansner JM; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA., Mendelsohn BA, Hultman KA, Johnson SL, Gitlin JD

المصدر: Developmental biology [Dev Biol] 2007 Jul 15; Vol. 307 (2), pp. 202-13. Date of Electronic Publication: 2007 May 01.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372762 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0012-1606 (Print) Linking ISSN: 00121606 NLM ISO Abbreviation: Dev Biol Subsets: MEDLINE

مواضيع طبية MeSH: Notochord/*embryology , Notochord/*enzymology , Protein-Lysine 6-Oxidase/*metabolism , Zebrafish/*embryology , Zebrafish/*metabolism, Animals ; Base Sequence ; Collagen Type II/genetics ; Collagen Type II/metabolism ; DNA Primers/genetics ; Gene Expression Regulation, Developmental ; Gene Expression Regulation, Enzymologic ; Models, Biological ; Notochord/abnormalities ; Phenotype ; Protein-Lysine 6-Oxidase/antagonists & inhibitors ; Protein-Lysine 6-Oxidase/genetics ; RNA, Antisense/genetics ; Zebrafish/genetics ; Zebrafish Proteins/antagonists & inhibitors ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism