Results 121 to 130 of about 9,987 (182)

Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols. [PDF]

Doc Ophthalmol
Padhy SK, Habjan MŠ, Constable PA.
europepmc   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model. [PDF]

Front Neurosci
Gurram V, An W, Bimal S, Urano F.
europepmc   +1 more source

Irreversible Ocular and Systemic Damage in ROSAH Syndrome. [PDF]

Ophthalmol Ther
Fabiani C, Caggiano V, Sbalchiero J, Gaggiano C, Cardamone C, De Bernardo M, Giudice V, Moscato P, Rosa N, Lopalco G, Cantarini L, Vitale A.   +11 more
europepmc   +1 more source

Atypical retinitis pigmentosa associated with <i>EYS</i> variants. [PDF]

Am J Ophthalmol Case Rep
Barthelemy N, Barrett S, Lee W, Sengillo JD.   +3 more
europepmc   +1 more source

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance. [PDF]

Neurogenetics
Gillesse EH, Wan M, Ashtiani S, Suchowersky O, Parboosingh JS, Bernier FP, Lamont RE, Innes AM, Au PYB, Care4Rare Canada Consortium.   +9 more
europepmc   +1 more source

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report. [PDF]

Front Neurol
Lai ZSY, O'Neil N, Siebert E, Colley S, Panegyres PK.   +4 more
europepmc   +1 more source

A Novel N-Terminal <i>PRPF6</i> Variant in Autosomal Dominant Retinitis Pigmentosa. [PDF]

Clin Case Rep
Li N, Dang Y.
europepmc   +1 more source

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 more
europepmc   +1 more source