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Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Leduc, Magalie S; Chao, Hsiao-Tuan; Qu, Chunjing; Walkiewicz, Magdalena; Xiao, Rui; Magoulas, Pilar; Pan, Shujuan; Beuten, Joke; He, Weimin; Bernstein, Jonathan A; Schaaf, Christian P; Scaglia, Fernando; Eng, Christine M; Yang, Yaping.
Afiliação
  • Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Chao HT; Baylor Genetics Laboratories, Houston, Texas.
  • Qu C; Department of Pediatrics, Section of Pediatric Neurology, Baylor College of Medicine, Houston, Texas.
  • Walkiewicz M; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Xiao R; Baylor Genetics Laboratories, Houston, Texas.
  • Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Pan S; Baylor Genetics Laboratories, Houston, Texas.
  • Beuten J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • He W; Baylor Genetics Laboratories, Houston, Texas.
  • Bernstein JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Scaglia F; Baylor Genetics Laboratories, Houston, Texas.
  • Eng CM; Baylor Genetics Laboratories, Houston, Texas.
  • Yang Y; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
Am J Med Genet A ; 173(10): 2680-2689, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28815871
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Transtornos do Neurodesenvolvimento Limite: Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Ribonucleoproteínas Nucleares Heterogêneas Grupo U / Transtornos do Neurodesenvolvimento Limite: Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article