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Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.
Tønne, Elin; Due-Tønnessen, Bernt Johan; Vigeland, Magnus Dehli; Amundsen, Silja Svanstrøm; Ribarska, Teodora; Åsten, Pamela Marika; Sheng, Ying; Helseth, Eirik; Gilfillan, Gregor Duncan; Mero, Inger-Lise; Heimdal, Ketil Riddervold.
Afiliação
  • Tønne E; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Due-Tønnessen BJ; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Vigeland MD; Norwegian National Unit for Craniofacial Surgery, Oslo University Hospital, Oslo, Norway.
  • Amundsen SS; Norwegian National Unit for Craniofacial Surgery, Oslo University Hospital, Oslo, Norway.
  • Ribarska T; Department of Neurosurgery, Oslo University Hospital, Oslo, Norway.
  • Åsten PM; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Sheng Y; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Helseth E; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Gilfillan GD; Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Mero IL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Heimdal KR; TAKO Centre, Lovisenberg Diakonale Hospital, Oslo, Norway.
Am J Med Genet A ; 188(5): 1464-1475, 2022 05.
Article em En | MEDLINE | ID: mdl-35080095
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese / Craniossinostoses Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese / Craniossinostoses Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article