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SETD1B-associated neurodevelopmental disorder.
Roston, Alexandra; Evans, Dan; Gill, Harinder; McKinnon, Margaret; Isidor, Bertrand; Cogné, Benjamin; Mwenifumbo, Jill; van Karnebeek, Clara; An, Jianghong; Jones, Steven J M; Farrer, Matthew; Demos, Michelle; Connolly, Mary; Gibson, William T.
Afiliação
  • Roston A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada alexandra.roston@phsa.ca.
  • Evans D; Centre for Applied Neurogenetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Gill H; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • McKinnon M; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, Vancouver, British Columbia, Canada.
  • Isidor B; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.
  • Mwenifumbo J; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, Pays de la Loire, France.
  • van Karnebeek C; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, Frances.
  • An J; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
  • Jones SJM; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Farrer M; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, Netherlands.
  • Demos M; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Connolly M; Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.
  • Gibson WT; Canada's Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada.
J Med Genet ; 58(3): 196-204, 2021 03.
Article em En | MEDLINE | ID: mdl-32546566
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá