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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Facies
Academic Article Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Classical lissencephaly syndromes: does the face reflect the brain?
Academic Article Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Toriello-Carey syndrome: delineation and review.
Academic Article Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Academic Article A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
Academic Article Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Academic Article Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Academic Article Duplication 2p16 is associated with perisylvian polymicrogyria.
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