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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Brain Stem
Academic Article
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Academic Article
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article
A developmental classification of malformations of the brainstem.
Academic Article
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Academic Article
Genotypically defined lissencephalies show distinct pathologies.
Academic Article
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
Academic Article
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Grant
The genetic basis of Dandy-Walker and other mid-hindbrain malformations
Academic Article
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Search Criteria
Brain Stem