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Is MED13L-related intellectual disability a recognizable syndrome?
Tørring, Pernille Mathiesen; Larsen, Martin Jakob; Brasch-Andersen, Charlotte; Krogh, Lotte Nylandsted; Kibæk, Maria; Laulund, Lone; Illum, Niels; Dunkhase-Heinl, Ulrike; Wiesener, Antje; Popp, Bernt; Marangi, Giuseppe; Hjortshøj, Tina Duelund; Ek, Jakob; Vogel, Ida; Becher, Naja; Roos, Laura; Zollino, Marcella; Fagerberg, Christina Ringmann.
Afiliação
  • Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. Electronic address: pernille.toerring@rsyd.dk.
  • Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Krogh LN; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
  • Laulund L; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
  • Illum N; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
  • Dunkhase-Heinl U; Department of Pediatrics, Hospital of Southern Jutland, Aabenraa, Denmark.
  • Wiesener A; Institute of Human Genetics, University of Erlangen-Nürnberg, Germany.
  • Popp B; Institute of Human Genetics, University of Erlangen-Nürnberg, Germany.
  • Marangi G; Institute of Genomic Medicine, Catholic University, Hospital A. Gemelli Foundation, Rome, Italy.
  • Hjortshøj TD; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Vogel I; Department of Clinical Genetics, Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
  • Becher N; Department of Clinical Genetics, Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.
  • Roos L; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Zollino M; Institute of Genomic Medicine, Catholic University, Hospital A. Gemelli Foundation, Rome, Italy.
  • Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Eur J Med Genet ; 62(2): 129-136, 2019 Feb.
Article em En | MEDLINE | ID: mdl-29959045
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deficiências do Desenvolvimento / Anormalidades Craniofaciais / Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda
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: Fenótipo / Deficiências do Desenvolvimento / Anormalidades Craniofaciais / Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Holanda