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Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I.
Afiliação
  • Pengelly RJ; Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Upstill-Goddard R; Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Arias L; Department of Biomedical Sciences, Medical School, Universidad de La Sabana, Bogota, Colombia.
  • Martinez J; Department of Biomedical Sciences, Medical School, Universidad de La Sabana, Bogota, Colombia.
  • Gibson J; Centre for Biological Sciences, Faculty of Natural & Environmental Sciences, University of Southampton, Southampton, UK.
  • Knut M; Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Collins AL; Department of Clinical Genetics, Southampton General Hospital, Southampton, UK.
  • Ennis S; Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Collins A; Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Briceno I; Department of Biomedical Sciences, Medical School, Universidad de La Sabana, Bogota, Colombia.
Clin Genet ; 88(5): 441-9, 2015 Nov.
Article em En | MEDLINE | ID: mdl-25441681
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Análise Mutacional de DNA / Fenda Labial / Fissura Palatina / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Análise Mutacional de DNA / Fenda Labial / Fissura Palatina / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido