Results 171 to 180 of about 10,766 (232)

Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies. [PDF]

J Clin Med
Kellner S, Weinitz S, Farmand G, Kellner U.   +3 more
europepmc   +1 more source

Inherited retinal dystrophies and orphan designations in the European Union. [PDF]

Eur J Ophthalmol
Moseley J, Leest T, Larsson K, Magrelli A, Stoyanova-Beninska V.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients. [PDF]

Curr Issues Mol Biol
Park Y, Kim Y, Koh I, Lee JY.
europepmc   +1 more source

Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies. [PDF]

Genes (Basel)
Yuan M, Chatterjee S, Leys M, Odom JV, Salido EM.   +4 more
europepmc   +1 more source

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

JAMA Ophthalmol
Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B.   +15 more
europepmc   +1 more source

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. [PDF]

Orphanet J Rare Dis
Lin YW, Huang YS, Lin CY, Lin CW, Wu CC, Yang CH, Yang CM, Chen PL, Chen TC.   +8 more
europepmc   +1 more source

Erratum in: Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium. [PDF]

Invest Ophthalmol Vis Sci
europepmc   +1 more source

Genetics of the Retinal Dystrophies

, 2018
Merepa, S, Broadgate, S, Sekaran, S, Halford, S   +3 more
openaire   +1 more source