Sign in
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
Journal article   Open access  Peer reviewed

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Wu-Lin Charng, Ender Karaca, Zeynep Coban Akdemir, Tomasz Gambin, Mehmed M. Atik, Shen Gu, Jennifer E. Posey, Shalini N. Jhangiani, Donna M. Muzny, Harsha Doddapaneni, …
BMC medical genomics, Vol.9(1), pp.42-42
19/07/2016
PMCID: PMC4950750
PMID: 27435318

Abstract

Copy Number Variants (CNV) Developmental Delay GRM7 ID Intellectual Disability (DD Neurodevelopment Whole exome sequencing (WES)
url
https://doi.org/10.1186/s12920-016-0208-3View
Published (Version of record) Open

Details