Results 201 to 210 of about 50,007 (274)

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction. [PDF]

open access: yesHGG Adv
Houge SD   +14 more
europepmc   +1 more source

Optic Nystagmus [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1927
openaire   +2 more sources

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB). [PDF]

open access: yesInt J Mol Sci
Kuszel L   +4 more
europepmc   +1 more source

Nystagmus Genetics [PDF]

open access: yes, 2012
Self, James, Lotery, Andrew
core  

Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS. [PDF]

open access: yesJ Neurol
Pellerin D   +11 more
europepmc   +1 more source

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