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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Atrophy
Concept
Olivopontocerebellar Atrophies
Concept
Optic Atrophy
Academic Article
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
Academic Article
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Academic Article
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article
Cerebellar ataxia with progressive improvement.
Academic Article
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Academic Article
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
Academic Article
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Search Criteria
Atrophy