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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
Hollstein, Ronja; Parry, David A; Nalbach, Lisa; Logan, Clare V; Strom, Tim M; Hartill, Verity L; Carr, Ian M; Korenke, Georg C; Uppal, Sandeep; Ahmed, Mushtaq; Wieland, Thomas; Markham, Alexander F; Bennett, Christopher P; Gillessen-Kaesbach, Gabriele; Sheridan, Eamonn G; Kaiser, Frank J; Bonthron, David T.
Afiliação
  • Hollstein R; Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Parry DA; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK.
  • Nalbach L; Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Logan CV; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hartill VL; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK Yorkshire Regional Genetics Service, Leeds, UK.
  • Carr IM; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK.
  • Korenke GC; Zentrum für Kinder- und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany.
  • Uppal S; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK.
  • Ahmed M; Yorkshire Regional Genetics Service, Leeds, UK.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Markham AF; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK.
  • Bennett CP; Yorkshire Regional Genetics Service, Leeds, UK.
  • Gillessen-Kaesbach G; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Sheridan EG; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK Yorkshire Regional Genetics Service, Leeds, UK.
  • Kaiser FJ; Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
  • Bonthron DT; Section of Genetics, School of Medicine, University of Leeds, Leeds, UK Yorkshire Regional Genetics Service, Leeds, UK.
J Med Genet ; 52(12): 797-803, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26424145
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2015 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: Ubiquitina-Proteína Ligases / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article