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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Ataxia
Concept
Ataxia Telangiectasia
Concept
Cerebellar Ataxia
Concept
Spinocerebellar Ataxias
Academic Article
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Academic Article
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Academic Article
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Academic Article
Cerebellar ataxia with progressive improvement.
Academic Article
Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
Concept
Ataxia Telangiectasia Mutated Proteins
Search Criteria
Ataxia