Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.

Kuperberg, Maya; Lev, Dorit; Blumkin, Lubov; Zerem, Ayelet; Ginsberg, Mira; Linder, Ilan; Carmi, Nirit; Kivity, Sarah; Lerman-Sagie, Tally; Leshinsky-Silver, Esther

Kuperberg, Maya; Lev, Dorit; Blumkin, Lubov; Zerem, Ayelet; Ginsberg, Mira; Linder, Ilan; Carmi, Nirit; Kivity, Sarah; Lerman-Sagie, Tally; Leshinsky-Silver, Esther.

Afiliación

Kuperberg M; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel maya.kuperberg@gmail.com.
Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
Blumkin L; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Zerem A; Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel.
Ginsberg M; Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel.
Linder I; Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel.
Carmi N; Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel.
Kivity S; Department of Pediatric Neurology, Wolfson Medical Center, Holon, Israel.
Lerman-Sagie T; Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
Leshinsky-Silver E; Molecular Genetics laboratory, Wolfson Medical Center, Holon, Israel.

J Child Neurol ; 31(14): 1534-1539, 2016 12.

Article en En | MEDLINE | ID: mdl-27572814

Asunto(s)

Secuenciación del Exoma; Pruebas Genéticas; Enfermedades del Sistema Nervioso/diagnóstico; Enfermedades del Sistema Nervioso/genética; Niño; Femenino; Humanos; Masculino; Estudios Retrospectivos

Palabras clave

ataxia; developmental delay; exomics; genetics; neurology

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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pruebas Genéticas / Secuenciación del Exoma / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Child Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: Israel

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