Results 91 to 100 of about 9,403 (149)

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

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

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

The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis. [PDF]

J Clin Med
Alsugair M, Alsuhaym F, Aldharee H, Alobaisi S, Alsharani S, Alwatban S, Alnahdi MA, Al Balwi M.   +7 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

3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic <i>SPG7</i> Pathogenic Variant. [PDF]

Acta Myol
Olarewaju BA, Harahsheh EY, Dweik KI, Tejon JB, Shurrab S, Johnson SA, Gavrilov DK, Osundiji MA.   +7 more
europepmc   +1 more source

Clinical and genetic characterization of <i>DNM1l</i>-related disorders: insights into genotype-phenotype correlations. [PDF]

Front Pediatr
Manting X, Hua L, Sheng H, Xiaodi H, Dan S, Fang F.   +5 more
europepmc   +1 more source