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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Mosaicism
Academic Article A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Academic Article Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Academic Article Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Academic Article Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Grant Megalencephaly and segmental brain overgrowth in humans
Grant Mosaic: post-zygotic mutations in vascular malformations
Search Criteria
  • Mosaicism