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Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Rafehi, Haloom; Szmulewicz, David J; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M; Delatycki, Martin B; Lockhart, Paul J; Bahlo, Melanie.
Afiliação
  • Rafehi H; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Szmulewicz DJ; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
  • Pope K; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
  • Wallis M; Cerebellar Ataxia Clinic, Neuroscience Department, Alfred Health, Melbourne, Victoria, Australia.
  • Christodoulou J; Balance Disorders and Ataxia Service, Royal Victorian Eye & Ear Hospital, East Melbourne, Victoria, Australia.
  • White SM; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Delatycki MB; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Tasmania, Australia.
  • Lockhart PJ; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Tasmania, Australia.
  • Bahlo M; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Mov Disord ; 35(9): 1675-1679, 2020 09.
Article em En | MEDLINE | ID: mdl-32407596
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália