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pro vyhledávání: '"Johari, Mridul"'
Autor:
Bryen SJ; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Ewans LJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Central Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, 2031, Australia., MacLennan SC; Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia., Donkervoort S; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Castro D; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., O'Grady G; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Cummings B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Chao KR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Weisburd B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Francioli L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Faiz F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Bournazos AM; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia., Hu Y; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, California., Malicki DM; Department of Pathology, Rady Children's Hospital University of California San Diego, San Diego, California., Doyle H; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Westmead, NSW, Australia., Witting N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, KU Leuven-University of Leuven, Leuven, Belgium., Urankar K; Department of Neuropathology, Southmead Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Beleza-Meireles A; Clinical Genetics, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Baptista J; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Ellard S; Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; Institute of Biomedical and Clinical Science, University of Exeter Medical School University of Exeter, Exeter, United Kingdom., Savarese M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Johari M; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Vihola A; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Udd B; Folkhälsan Research Center, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.; Tampere Neuromuscular Center, Tampere University Hospital, Teiskontie 35, Tampere, 33520, Finland., Majumdar A; Paediatric Neurology, Bristol Royal Hospital For Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney Children's Hospital Westmead Clinical School, Westmead, New South Wales, Australia.; Functional Neuromics, The Children's Medical Research Institute, Westmead, New South Wales, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2020 Feb; Vol. 41 (2), pp. 403-411. Date of Electronic Publication: 2019 Dec 03.