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RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba, Carolin K; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Ghaoui, Roula; Ghia, Darshan; Henderson, Robert D; Jordan, Nerissa; Winkel, Antony; Lamont, Phillipa J; Rodrigues, Miriam J; Roxburgh, Richard H; Weisburd, Ben; Laing, Nigel G; Deveson, Ira W; Davis, Mark R; Ravenscroft, Gianina.
  • Scriba CK; Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Stevanovski I; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Chintalaphani SR; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Gamaarachchi H; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.
  • Ghaoui R; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Ghia D; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.
  • Henderson RD; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2050, Australia.
  • Jordan N; Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Winkel A; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.
  • Lamont PJ; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.
  • Rodrigues MJ; Department of Neurology, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.
  • Roxburgh RH; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
  • Weisburd B; UWA Medical School, University of Western Australia, Perth, WA 6009, Australia.
  • Laing NG; Neurology and Stroke Unit, Fiona Stanley Hospital, Murdoch, WA 6150, Australia.
  • Deveson IW; Centre for Clinical Research, University of Queensland, Herston, QLD 4006, Australia.
  • Davis MR; Department of Neurology, Fiona Stanley Hospital, Perth, WA 6150, Australia.
  • Ravenscroft G; Department of Neurosciences, Griffith University, Sunshine Coast University Hospital, Mount Gravatt, QLD 4111, Australia.
Brain Commun ; 5(4): fcad208, 2023.
Article en En | MEDLINE | ID: mdl-37621409
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Año: 2023 Tipo del documento: Article