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A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant. [PDF]

open access: yesHum Genome Var
Miura S   +9 more
europepmc   +1 more source

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism. [PDF]

open access: yesBMC Med Genomics
Sanders VR   +3 more
europepmc   +1 more source
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Hemidystonia‐hemiatrophy syndrome

Movement Disorders, 2009
AbstractTo define the clinical and radiological features of patients with the combination of hemidystonia (HD) and hemiatrophy (HA), the HD‐HA syndrome. HD is a very disabling neurological condition that is rarely associated with HA of the affected body part, similar to the hemiparkinsonism‐hemiatrophy syndrome.
Joseph Jankovic
exaly   +3 more sources

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