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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Homozygote
Academic Article
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Academic Article
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
Academic Article
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Search Criteria
Homozygote