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المؤلفون: Lederbogen RC; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Thiels C; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany., Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany., Singer S; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany., Yusenko MV; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Gerding WM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

المصدر: Genes [Genes (Basel)] 2024 Jun 19; Vol. 15 (6). Date of Electronic Publication: 2024 Jun 19.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Translocation, Genetic* , Developmental Disabilities*/genetics , Developmental Disabilities*/pathology, Humans ; Male ; ras Guanine Nucleotide Exchange Factors/genetics ; Chromosome Mapping ; Chromosomes, Human, Pair 5/genetics ; Intellectual Disability/genetics ; Intellectual Disability/pathology

المؤلفون: Schroeder C; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Centre for Personalized Cancer Prevention, University Hospital Tübingen, Tübingen, Germany., Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Krauße L; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Liebmann A; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Abele M; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Kelemen O; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Pohle A; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Gauß S; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Roggia C; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Streiter M; Department of Paediatric Haematology and Oncology, Children's Hospital Heilbronn, Heilbronn, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Armenau-Ebinger S; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Nann D; Institute of Pathology and Neuropathology, University Hospital Tübingen, Tübingen, Germany., Beschorner R; Institute of Pathology and Neuropathology, University Hospital Tübingen, Tübingen, Germany., Handgretinger R; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany., Ebinger M; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany., Lang P; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany., Holzer U; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany., Skokowa J; Department of Oncology, Haematology, Immunology, Rheumatology, and Pulmonology, University Hospital Tübingen, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; Centre for Personalized Cancer Prevention, University Hospital Tübingen, Tübingen, Germany.; NGS Core Centre Tübingen, University Tübingen, Tübingen, Germany., Brecht IB; Department of Paediatric Haematology and Oncology, University Children's Hospital Tübingen, Tübingen, Germany. ines.brecht@med.uni-tuebingen.de.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Oct; Vol. 31 (10), pp. 1139-1146. Date of Electronic Publication: 2023 Jul 28.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Neoplasms*/genetics, Humans ; Child ; Germ-Line Mutation ; Genetic Testing/methods ; Genotype ; Ribonuclease III/genetics ; DEAD-box RNA Helicases/genetics

المؤلفون: Hurst J; Center for Ophthalmology, University Eye Hospital Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tuebingen, Germany., Attrodt G; Center for Ophthalmology, University Eye Hospital Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tuebingen, Germany., Bartz-Schmidt KU; Center for Ophthalmology, University Eye Hospital Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tuebingen, Germany., Mau-Holzmann UA; Institute for Medical Genetics and Applied Genomics, Center for Rare Diseases, University of Tuebingen, Calwerstrasse 7, 72076 Tübingen, Germany., Spitzer MS; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf (UKE), Martinistraße 52, 20251 Hamburg, Germany., Schnichels S; Center for Ophthalmology, University Eye Hospital Tübingen, Elfriede-Aulhorn-Str. 7, 72076 Tuebingen, Germany.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Sep 07; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Drug Contamination* , Glaucoma*, Animals ; Mice ; Cell Differentiation ; Cell Line ; Retinal Cone Photoreceptor Cells ; Tubulin

المؤلفون: Haag C; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany. Electronic address: carolin.fischer@uni-tuebingen.de., Uysal B; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany., Marquetand J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany., Löffler H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany., Mau-Holzmann UA; Department of Medical Genetics and Applied Genomics, University of Tuebingen, Germany., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany., Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany.

المصدر: Stem cell research [Stem Cell Res] 2023 Mar; Vol. 67, pp. 103028. Date of Electronic Publication: 2023 Jan 13.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Epilepsy*/genetics, Humans ; Female ; Mutation ; INDEL Mutation ; Fibroblasts ; Cell Differentiation ; Syntaxin 1/genetics ; Syntaxin 1/metabolism

المؤلفون: Schmid B; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Holst B; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Poulsen U; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Jørring I; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Clausen C; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Rasmussen M; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tübingen, 72076, Germany., Steeg R; Fraunhofer UK Research Ltd, Glasgow, UK., Nuthall H; Eli Lilly & Company Limited, Bracknell, UK., Ebneth A; Neuroscience Therapeutic Area, Janssen Research & Development, A Division of Janssen Pharmaceutica NV, UK., Cabrera-Socorro A; Neuroscience Therapeutic Area, Janssen Research & Development, A Division of Janssen Pharmaceutica NV, UK. Electronic address: acabrer8@its.jnj.com.

المصدر: Stem cell research [Stem Cell Res] 2021 Apr; Vol. 52, pp. 102240. Date of Electronic Publication: 2021 Feb 11.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*, Cell Differentiation ; Gene Editing ; Genes, Reporter ; Transgenes

المؤلفون: Stock R; Molecular Biology and Neurobiology, NMI Natural and Medical Sciences Institute at the University of Tübingen, Markwiesenstr. 55, 72770 Reutlingen, Germany., Vogel S; Molecular Biology and Neurobiology, NMI Natural and Medical Sciences Institute at the University of Tübingen, Markwiesenstr. 55, 72770 Reutlingen, Germany., Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstr. 7, 72076 Tübingen, Germany., Kriebel M; Molecular Biology and Neurobiology, NMI Natural and Medical Sciences Institute at the University of Tübingen, Markwiesenstr. 55, 72770 Reutlingen, Germany., Wüst R; Department of Psychiatry, University of Tübingen, Osianderstr. 24, 72076 Tübingen, Germany., Fallgatter AJ; Department of Psychiatry, University of Tübingen, Osianderstr. 24, 72076 Tübingen, Germany., Volkmer H; Molecular Biology and Neurobiology, NMI Natural and Medical Sciences Institute at the University of Tübingen, Markwiesenstr. 55, 72770 Reutlingen, Germany. Electronic address: volkmer@nmi.de.

المصدر: Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101961. Date of Electronic Publication: 2020 Aug 27.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Schizophrenia*/genetics, Case-Control Studies ; Cell Differentiation ; Cell Line ; Cellular Reprogramming ; Fibroblasts ; Humans

المؤلفون: Schmid B; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Prehn KR; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Nimsanor N; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark; Department of Clinical Microscopy, Faculty of Medical Technology, Mahidol University, Bangkok 10700, Thailand., Garcia BIA; Neurometabolism Research Unit, Department of Drug Design and Pharmacology, University of Copenhagen, Denmark., Poulsen U; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Jørring I; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Rasmussen MA; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Clausen C; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Mau-Holzmann UA; Institute of Medical Genetics and Applied Genomics, Division of Cytogenetics, Calwerstrasse 7, University of Tuebingen, 72076, Germany., Ramakrishna S; Institute for Stem Cell Biology and Regenerative Medicine (inStem), Bengaluru, Karnataka, India; University of Trans-Disciplinary Health Sciences & Technology (TDU), Bengaluru, Karnataka, India., Muddashetty R; Institute for Stem Cell Biology and Regenerative Medicine (inStem), Bengaluru, Karnataka, India., Steeg R; Censo Biotechnologies, Edinburgh EH25 9PP, UK., Bruce K; Censo Biotechnologies, Edinburgh EH25 9PP, UK., Mackintosh P; Censo Biotechnologies, Edinburgh EH25 9PP, UK., Ebneth A; Janssen Research & Development, a division of Janssen Pharmaceutica; N.V., Neuroscience Therapeutic Area, Turnhoutseweg 30, 2340 Beerse, Belgium., Holst B; Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark., Cabrera-Socorro A; Janssen Research & Development, a division of Janssen Pharmaceutica; N.V., Neuroscience Therapeutic Area, Turnhoutseweg 30, 2340 Beerse, Belgium. Electronic address: acabrer8@its.jnj.com.

المصدر: Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 102005. Date of Electronic Publication: 2020 Sep 21.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: PubMed not MEDLINE; MEDLINE