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Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Mathijssen, Inge B; Henneman, Lidewij; van Eeten-Nijman, Janneke M C; Lakeman, Phillis; Ottenheim, Cecile P E; Redeker, Egbert J W; Ottenhof, Winnie; Meijers-Heijboer, Hanne; van Maarle, Merel C.
Afiliación
  • Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: i.b.mathijssen@amc.uva.nl.
  • Henneman L; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • van Eeten-Nijman JM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Lakeman P; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Ottenheim CP; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Redeker EJ; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Ottenhof W; Waterland Oost Midwifery Practice, Volendam, The Netherlands.
  • Meijers-Heijboer H; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • van Maarle MC; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Eur J Med Genet ; 58(3): 123-8, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25641760
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genes Recesivos / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged / Pregnancy País/Región como asunto: Europa Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pruebas Genéticas / Genes Recesivos / Tamización de Portadores Genéticos Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged / Pregnancy País/Región como asunto: Europa Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article