Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.

Saxena, Deepti; Srivastava, Somya; Maurya, Rajesh K; Moirangthem, Amita; Mandal, Kausik; Phadke, Shubha

Saxena, Deepti; Srivastava, Somya; Maurya, Rajesh K; Moirangthem, Amita; Mandal, Kausik; Phadke, Shubha.

Afiliación

Saxena D; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Srivastava S; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Maurya RK; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Mandal K; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Phadke S; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Prenat Diagn ; 43(5): 579-595, 2023 05.

Article en En | MEDLINE | ID: mdl-36964991

Asunto(s)

Exoma; Secuenciación de Nucleótidos de Alto Rendimiento; Niño; Recién Nacido; Humanos; Estudios Retrospectivos; Padres; Secuenciación del Exoma; Pruebas Genéticas/métodos

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Newborn Idioma: En Revista: Prenat Diagn Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google