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Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim, Eileen C P; Brett, Maggie; Lai, Angeline H M; Lee, Siew-Peng; Tan, Ee-Shien; Jamuar, Saumya S; Ng, Ivy S L; Tan, Ene-Choo.
Afiliação
  • Lim EC; KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. Eileen.Lim.CP@kkh.com.sg.
  • Brett M; KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. Maggie.Brett@kkh.com.sg.
  • Lai AH; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, 229899, Singapore. Angeline.Lai.HM@kkh.com.sg.
  • Lee SP; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, 169857, Singapore. Angeline.Lai.HM@kkh.com.sg.
  • Tan ES; KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore. Lee.Siew.Peng@kkh.com.sg.
  • Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, 229899, Singapore. tan.ee.shien@kkh.com.sg.
  • Ng IS; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, 169857, Singapore. tan.ee.shien@kkh.com.sg.
  • Tan EC; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, 229899, Singapore. saumya.s.jamuar@kkh.com.sg.
Hum Genomics ; 9: 33, 2015 Dec 14.
Article em En | MEDLINE | ID: mdl-26666243
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Sequenciamento de Nucleotídeos em Larga Escala / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article