학술논문
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Document Type
Journal Article
Author
Megahed, Hisham; Nicouleau, Michaël; Barcia, Giulia; Medina-Cano, Daniel; Siquier-Pernet, Karine; Bole-Feysot, Christine; Parisot, Mélanie; Masson, Cécile; Nitschké, Patrick; Rio, Marlène; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Boddaert, Nathalie; Colleaux, Laurence; Cantagrel, Vincent
Source
Subject
*EXOMES
*GENETIC disorders
*DIAGNOSIS of epilepsy
*BRAIN imaging
*MAGNETIC resonance imaging
*BRAIN
*CEREBELLAR ataxia
*COMPARATIVE studies
*DEVELOPMENTAL disabilities
*GENOMES
*RESEARCH methodology
*MEDICAL cooperation
*GENETIC mutation
*RESEARCH
*PHENOTYPES
*EVALUATION research
*ATROPHY
*EARLY diagnosis
*SEQUENCE analysis
*DIAGNOSIS
DIAGNOSIS of developmental disabilities
BRAIN metabolism
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Language
ISSN
1750-1172
Abstract