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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft, Sarah J; Yau, Kyle S; Allcock, Richard J N; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael M; Cabrera-Serrano, Macarena; Nowak, Kristen J; Pachter, Nicholas; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Laing, Nigel G.
Afiliación
  • Beecroft SJ; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Yau KS; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Allcock RJN; School of Biomedical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  • Mina K; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Gooding R; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Faiz F; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Atkinson VJ; School of Biomedical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  • Wise C; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Sivadorai P; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Trajanoski D; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Kresoje N; Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Ong R; School of Biomedical Sciences, University of Western Australia, Perth, Western Australia, Australia.
  • Duff RM; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Cabrera-Serrano M; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Nowak KJ; Department of Neurology, Hospital Universitario Virgen del Rocio, Instituto de Biomedicina de Sevilla, CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Pachter N; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Ravenscroft G; Public and Aboriginal Health Division, Department of Health, Office of Population Health Genomics, Perth, Western Australia, Australia.
  • Lamont PJ; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
  • Davis MR; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
Ann Clin Transl Neurol ; 7(3): 353-362, 2020 03.
Article en En | MEDLINE | ID: mdl-32153140
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Neuromusculares Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Oceania Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Neuromusculares Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Oceania Idioma: En Año: 2020 Tipo del documento: Article