لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Riquin K; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Chatron N; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Lamar KM; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Aziz MC; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Monin P; Service de génétique, Hospices Civils de Lyon, Lyon, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Garimella KV; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Yoon E; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., Weisburd B; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Aguet F; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sarusi Y; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Sanlaville D; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France., Kayani S; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Broadbent B; Coalition to Cure CHD2, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Pengam A; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France., MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Ulitsky I; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Carvill GL; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 07. Date of Electronic Publication: 2024 Feb 07.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE