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Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 765 - 787
Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes.... 
icCSNB | synonymous variants | intronic variants | IRD | minigene approach | gene defect | CACNA1F | COMPLEX | LARGE COHORT | GENOME | ABCR | MUTATION SPECTRUM | UNC80 | DYSTROPHY | FAMILIES | GENETICS & HEREDITY | PROBANDS | STATIONARY NIGHT BLINDNESS | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Phenotypes | Blindness | Retina | Genomes | Regulatory sequences | Diagnosis | Nyctalopia | Stationary night blindness
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 04/2019, Volume 236, Issue 4, pp. 451 - 461
Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs... 
autosomal dominant optic atrophy | EFFICACY | ATROPHY | IDENTIFICATION | DYSTONIA | Leber's hereditary optic neuropathy (LHON) | ENCEPHALOPATHY | genetics | GENE | novel mutation | FAMILIES | OPHTHALMOLOGY | inherited optic neuropathy | DEAFNESS | DYSFUNCTION | MTDNA MUTATIONS
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 637 - 641
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2018, Volume 2018, pp. 1030184 - 7
To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different... 
MEDICINE, RESEARCH & EXPERIMENTAL | TRANSPORTER SUPERFAMILY | RIM PROTEIN | DYSTROPHY | FUNDUS FLAVIMACULATUS | OPHTHALMOLOGY | MACULAR DEGENERATION | GENE ABCR | MICE | CONE
Journal Article
Journal Article
Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2017, Volume 58, Issue 8
Conference Proceeding
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2017, Volume 58, Issue 8
Conference Proceeding
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2017, Volume 58, Issue 8
Conference Proceeding
SCIENTIFIC REPORTS, ISSN 2045-2322, 05/2017, Volume 7
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2017, Volume 100, Issue 4, pp. 592 - 604
Journal Article