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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Choristoma
Academic Article Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Academic Article Truncation of NHEJ1 in a patient with polymicrogyria.
Academic Article Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies.
Academic Article Genotypically defined lissencephalies show distinct pathologies.
Academic Article Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Academic Article Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
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  • Choristoma