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CELL DEATH & DISEASE, ISSN 2041-4889, 03/2018, Volume 9, Issue 3, pp. 350 - 18
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 261 - 268
Genetic testing is a medical test that studies human DNA to discover genetic changes or mutations that could lead to genetic disease. Genetic testing is... 
Inherited retinal dystrophy | Genetic testing | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | RECOMMENDATIONS | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
Experimental Eye Research, ISSN 0014-4835, 10/2019, Volume 187, p. 107752
Cone-rod dystrophies (CRD) are a group of Inherited Retinal Dystrophies (IRD) characterized by the primary involvement of cone photoreceptors, resulting in the... 
Genotype-phenotype correlations | Macula | Next-generation sequencing | Inherited retinal dystrophy | Mutation | DRAM2 | Gene expression | Cone-rod dystrophy
Journal Article
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 245 - 259
Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang... 
Inherited retinal dystrophy | Clinical examination | Imaging | MEDICINE, RESEARCH & EXPERIMENTAL | ROD RESPONSES | CANINE MODEL | FUNDUS AUTOFLUORESCENCE | VITAMIN-A | DEGENERATION | TRANSPLANTATION | CELL BIOLOGY | GENETICS & HEREDITY | OPHTHALMOLOGY | S-CONE SYNDROME | GENE-TRANSFER | GAMMA-SUBUNIT | RETINITIS-PIGMENTOSA
Journal Article
Expert Review of Molecular Diagnostics, ISSN 1473-7159, 10/2015, Volume 15, Issue 10, pp. 1269 - 1275
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 118 - 123
Background: Inherited retinal dystrophy (IRD) is a group of retinal disorders that are both clinically and genetically diverse, typically with loss of... 
SLC7A14 gene | mutations | Inherited retinal dystrophy | targeted exome sequencing
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 07/2019, Volume 40, Issue 4, pp. 350 - 358
Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors... 
Brinzolamide/carbonic anhydrase inhibitors | Retinitis pigmentosa (RP) | X-linked juvenile retinoschisis (XLRS) | inherited retinal dystrophy | Leber congenital amaurosis (LCA)
Journal Article
Journal Article