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Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.
Wayhelova, Marketa; Vallova, Vladimira; Broz, Petr; Mikulasova, Aneta; Loubalova, Dominika; Filkova, Hana; Smetana, Jan; Drabova, Klara; Gaillyova, Renata; Kuglik, Petr.
Afiliação
  • Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. marketa.wayhelova@mail.muni.cz.
  • Vallova V; Laboratory of Cytogenomics, Centre of Molecular Biology and Genetics, Department of Internal Medicine, Haematology and Oncology, University Hospital Brno, Brno, Czech Republic. marketa.wayhelova@mail.muni.cz.
  • Broz P; Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech Republic. marketa.wayhelova@mail.muni.cz.
  • Mikulasova A; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Loubalova D; Laboratory of Cytogenomics, Centre of Molecular Biology and Genetics, Department of Internal Medicine, Haematology and Oncology, University Hospital Brno, Brno, Czech Republic.
  • Filkova H; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Smetana J; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and Faculty Hospital Motol, Prague, Czech Republic.
  • Drabova K; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Gaillyova R; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Kuglik P; Laboratory of Cytogenomics, Centre of Molecular Biology and Genetics, Department of Internal Medicine, Haematology and Oncology, University Hospital Brno, Brno, Czech Republic.
J Hum Genet ; 67(4): 209-214, 2022 Apr.
Article em En | MEDLINE | ID: mdl-34819662
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article