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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning, Maayke A; Haak, Monique C; Adama van Scheltema, Phebe N; Peeters-Scholte, Cacha M P C D; Koopmann, Tamara T; Nibbeling, Esther A R; Aten, Emmelien; den Hollander, Nicolette S; Ruivenkamp, Claudia A L; Hoffer, Mariëtte J V; Santen, Gijs W E.
Afiliação
  • de Koning MA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Haak MC; Department of Obstetrics and Fetal Medicine, Leiden University Medical Centre, Leiden, the Netherlands.
  • Adama van Scheltema PN; Department of Obstetrics and Fetal Medicine, Leiden University Medical Centre, Leiden, the Netherlands.
  • Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
  • Koopmann TT; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Aten E; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • den Hollander NS; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands. santen@lumc.nl.
Genet Med ; 21(10): 2303-2310, 2019 10.
Article em En | MEDLINE | ID: mdl-30918357
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda