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Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk, Guy M; Berry, Ian R; Stutterd, Chloe A; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul-Fernandez, Miriam; Rodriguez-Casero, Victoria; Lockhart, Paul J; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M; Christodoulou, John; Skibina, Olga; Ruddle, Jonathan; Tan, Tiong Y; Leventer, Richard J; Livingston, John H; Meisler, Miriam H.
Afiliação
  • Lenk GM; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
  • Berry IR; Leeds Genetics Laboratory, The Leeds Teaching Hospitals NHS Trust, St James's University Hospital, Leeds, UK.
  • Stutterd CA; Murdoch Children's Research Institute, Melbourne, Australia.
  • Blyth M; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Green L; Royal Children's Hospital, Melbourne, Australia.
  • Vadlamani G; Yorkshire Regional Genetics Service, The Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
  • Warren D; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, UK.
  • Craven I; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, UK.
  • Fanjul-Fernandez M; The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, UK.
  • Rodriguez-Casero V; The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds, UK.
  • Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Australia.
  • Vanderver A; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Simons C; Royal Children's Hospital, Melbourne, Australia.
  • Gibb S; Murdoch Children's Research Institute, Melbourne, Australia.
  • Sadedin S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • White SM; Murdoch Children's Research Institute, Melbourne, Australia.
  • Christodoulou J; Institute for Molecular Bioscience, University of Queensland, St Lucia, Australia.
  • Skibina O; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Ruddle J; Royal Children's Hospital, Melbourne, Australia.
  • Tan TY; Murdoch Children's Research Institute, Melbourne, Australia.
  • Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Meisler MH; Murdoch Children's Research Institute, Melbourne, Australia.
Hum Mutat ; 40(5): 619-630, 2019 05.
Article em En | MEDLINE | ID: mdl-30740813
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article