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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2016, Volume 172, Issue 4, pp. 349 - 366
Journal Article
Cellular and Molecular Life Sciences (CMLS), ISSN 1420-682X, 09/2019, Volume 76, Issue 17, p. 3657
D190N, a missense mutation in rhodopsin, causes photoreceptor degeneration in patients with autosomal dominant retinitis pigmentosa (adRP). Two competing... 
Glaucoma | Proteins | Rhodopsin | Retinitis pigmentosa | Analysis | Isomerization | Models | Genetic aspects | Cells
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 06/2016, Volume 134, Issue 6, pp. 711 - 712
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 11170 - 11
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in... 
HEARING-LOSS | LONG ISOFORM | CLINICAL-TRIAL | GENE | USHER-SYNDROME | MULTIDISCIPLINARY SCIENCES | MUTATION | RECESSIVE RETINITIS-PIGMENTOSA | SYNDROME TYPE IIA | VITAMIN-A | DISEASE PROGRESSION | Genotype & phenotype | Visual thresholds | USH2A protein | Retinitis pigmentosa | Clinical trials | Retina | Retinitis | Mutation | Hearing loss
Journal Article
Current Opinion in Ophthalmology, ISSN 1040-8738, 01/2017, Volume 28, Issue 3, pp. 252 - 259
Journal Article
Molecular Therapy, ISSN 1525-0016, 08/2018, Volume 26, Issue 8, pp. 1953 - 1964
Journal Article