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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Academic Article Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.
Academic Article Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Academic Article The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Academic Article Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Academic Article Periventricular nodular heterotopia with overlying polymicrogyria.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Academic Article A developmental and genetic classification for midbrain-hindbrain malformations.
Academic Article Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Academic Article Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine.
Academic Article Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Academic Article A developmental and genetic classification for malformations of cortical development: update 2012.
Academic Article Vascular abnormalities in epidermal nevus syndrome.
Academic Article Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
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