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Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort
(2022)
Abstract:
Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a frst-tier test for many NDDs. We ...
Single-cell transcriptome identifes molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
(2021)
Background:
In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discov ered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly ...