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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
Truncation of NHEJ1 in a patient with polymicrogyria
