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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur, Simranpreet; Van Bergen, Nicole J; Verhey, Kristen J; Nowell, Cameron J; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J; Massey, Sean; Sonawane, Rhea; Burton, Matthew D; Schonewolf-Greulich, Bitten; Tümer, Zeynep; Chung, Wendy K; Gold, Wendy A; Christodoulou, John.
Afiliação
  • Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Van Bergen NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Verhey KJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Nowell CJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Budaitis B; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan.
  • Yue Y; Drug Discover Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Melbourne, Victoria, Australia.
  • Ellaway C; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan.
  • Brunetti-Pierri N; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan.
  • Cappuccio G; Discipline of Genomic Medicine, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Bruno I; Western Sydney Genetics Program, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Boyle L; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
  • Nigro V; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Torella A; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
  • Roscioli T; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Cowley MJ; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Massey S; Division of Molecular Genetics, Columbia University Irving Medical Center, New York, New York.
  • Sonawane R; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Burton MD; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Schonewolf-Greulich B; New South Wales Health Pathology, Randwick, New South Wales, Australia.
  • Tümer Z; Neuroscience Research Australia, University of New South Wales, Sydney, New South Wales, Australia.
  • Chung WK; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Gold WA; St Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia.
  • Christodoulou J; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW, Sydney, New South Wales, Australia.
Hum Mutat ; 41(10): 1761-1774, 2020 10.
Article em En | MEDLINE | ID: mdl-32652677
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cinesinas / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies Limite: Female / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos