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Characterization of large deletions in the DHCR7 gene.
Lanthaler, B; Hinderhofer, K; Maas, B; Haas, D; Sawyer, H; Burton-Jones, S; Carter, K; Suri, M; Witsch-Baumgartner, M.
Afiliación
  • Lanthaler B; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Maas B; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Haas D; Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
  • Sawyer H; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.
  • Burton-Jones S; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.
  • Carter K; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Witsch-Baumgartner M; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Clin Genet ; 88(2): 149-54, 2015 Aug.
Article en En | MEDLINE | ID: mdl-25040602
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Síndrome de Smith-Lemli-Opitz / Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Austria
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Síndrome de Smith-Lemli-Opitz / Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Austria