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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Gene Duplication
Academic Article
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article
Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Academic Article
Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Academic Article
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Search Criteria
Gene Duplication