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A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Hochstenbach, Ron; van Binsbergen, Ellen; Schuring-Blom, Heleen; Buijs, Arjan; Ploos van Amstel, Hans Kristian.
Afiliação
  • Hochstenbach R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands. Electronic address: p.hochstenbach@vumc.nl.
  • van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
  • Schuring-Blom H; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
  • Buijs A; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
  • Ploos van Amstel HK; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
Eur J Med Genet ; 62(9): 103543, 2019 Sep.
Article em En | MEDLINE | ID: mdl-30248410
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Transtornos Cromossômicos / Sequenciamento Completo do Genoma / Cariotipagem Tipo de estudo: Diagnostic_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 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: Testes Genéticos / Transtornos Cromossômicos / Sequenciamento Completo do Genoma / Cariotipagem Tipo de estudo: Diagnostic_studies / Evaluation_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article