Výsledky vyhledávání - "Vasudevan, PC"

Akademický článek

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Autor: Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Gardner JF; All Wales Medical Genomics Service, Cardiff, United Kingdom., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., de Lange IM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Wilson GN; Texas Tech Health Science Center, Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA., Dubbs H; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Goldberg EM; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zitano L; Spectrum Health Medical Genetics, Grand Rapids, MI, USA., Bupp C; Spectrum Health Medical Genetics, Grand Rapids, MI, USA., Martinez J; Department of Pediatrics and Adolescent Medicine, Division of Genetics, University of South Alabama, Mobile, AL, USA., Srour M; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA., Accogli A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA., Alhakeem A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA., Meltzer M; Department of Neurology, Children's National Hospital, Washington, DC, USA., Gropman A; Department of Neurology, Children's National Hospital, Washington, DC, USA., Brewer C; Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Caswell RC; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Montgomery T; Newcastle upon Tyne Hospitals NHS Foundation Trust, Washington, USA., McKenna C; Northern Ireland Regional Genetics Service, Exeter, UK., McKee S; Northern Ireland Regional Genetics Service, Exeter, UK., Powell C; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK., Vasudevan PC; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK., Brady AF; North West Thames Regional Genetics Service, Northwick Park and St. Mark's Hospitals, Harrow, UK., Joss S; NHS Greater Glasgow and Clyde, Scotland, UK., Tysoe C; Royal Devon and Exeter NHS Foundation Trust, Scotland, UK., Noh G; Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, CA, USA., Tarnopolsky M; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada., Brady L; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada., Zafar M; Duke University Health System, Durham, NC, USA., Schrier Vergano SA; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Murray B; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Sawyer L; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Hainline BE; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Sapp K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., DeMarzo D; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Huismann DJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Wentzensen IM; GeneDx, Inc, Gaithersburg, MD, USA., Schnur RE; GeneDx, Inc, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Inc, Gaithersburg, MD, USA., Juusola J; GeneDx, Inc, Gaithersburg, MD, USA., Rhodes L; GeneDx, Inc, Gaithersburg, MD, USA., Dobyns WB; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Polster T; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany., Axer-Schaefer S; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, CA, USA., 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 University of New South Wales Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., O'Leary MC; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; 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., Varghese VC; All Wales Medical Genomics Service, Cardiff, United Kingdom., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA. hmefford@uw.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 881-887. Date of Electronic Publication: 2021 Jan 20.

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