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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui; Xie, Pingxing; Need, Anna; Goldstein, David B; Goldstein, David G.
Afiliación
  • Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • McConkie-Rosell A; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Rosell B; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Vellore K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • McDonald M; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Jiang YH; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA.
  • Xie P; Center for Human Genome Variation, Duke University Medical Center, Durham, North Carolina, USA.
  • Need A; Center for Human Genome Variation, Duke University Medical Center, Durham, North Carolina, USA.
  • Goldstein DG; Center for Human Genome Variation, Duke University Medical Center, Durham, North Carolina, USA.
Genet Med ; 16(2): 176-82, 2014 Feb.
Article en En | MEDLINE | ID: mdl-23928913
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Análisis de Secuencia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos