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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley, Lisa G; Cowley, Mark J; Gayevskiy, Velimir; Minoche, Andre E; Puttick, Clare; Thorburn, David R; Rius, Rocio; Compton, Alison G; Menezes, Minal J; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M; Balasubramaniam, Shanti; Christodoulou, John.
Afiliação
  • Riley LG; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, Australia. lisa.riley@health.nsw.gov.au.
  • Cowley MJ; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au.
  • Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Minoche AE; Children's Cancer Institute & School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia.
  • Puttick C; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Thorburn DR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Rius R; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.
  • Compton AG; Murdoch Children's Research Institute, Melbourne, Australia.
  • Menezes MJ; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
  • Bhattacharya K; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Coman D; Murdoch Children's Research Institute, Melbourne, Australia.
  • Ellaway C; Murdoch Children's Research Institute, Melbourne, Australia.
  • Alexander IE; Genetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, Australia.
  • Adams L; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia.
  • Kava M; Discipline of Child & Adolescent Health, University of Sydney, Sydney, NSW, Australia.
  • Robinson J; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Sue CM; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, QLD, Australia.
  • Balasubramaniam S; School of Clinical Medicine, University of Queensland, Brisbane, QLD, Australia.
  • Christodoulou J; School of Medicine, Griffith University, Gold Coast, QLD, Australia.
Genet Med ; 22(7): 1254-1261, 2020 07.
Article em En | MEDLINE | ID: mdl-32313153
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Genoma Mitocondrial Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans País/Região como assunto: Oceania Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Genoma Mitocondrial Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans País/Região como assunto: Oceania Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália