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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Grosz, Bianca R; Stevanovski, Igor; Negri, Sara; Ellis, Melina; Barnes, Stephanie; Reddel, Stephen; Vucic, Steve; Nicholson, Garth A; Cortese, Andrea; Kumar, Kishore R; Deveson, Ira W; Kennerson, Marina L.
Afiliación
  • Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.
  • Stevanovski I; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Negri S; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy.
  • Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.
  • Barnes S; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
  • Reddel S; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
  • Vucic S; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
  • Nicholson GA; Faculty of Medicine, University of Notre Dame, Sydney, New South Wales, Australia.
  • Cortese A; Department of Neurology, Hornsby Ku-Ring-Gai Hospital, Sydney, New South Wales, Australia.
  • Kumar KR; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
  • Deveson IW; Department of Neurology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.
  • Kennerson ML; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia.
J Peripher Nerv Syst ; 27(2): 120-126, 2022 06.
Article en En | MEDLINE | ID: mdl-35224818
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / L-Iditol 2-Deshidrogenasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: Oceania Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / L-Iditol 2-Deshidrogenasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: Oceania Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Australia