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Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 329 - 333
Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod‐cone dystrophy (RCD), the youngest with... 
complex phenotypes | CC2D2A | inherited retinal dystrophy | whole exome sequencing | GENETICS & HEREDITY | Phenotypes | Clonal deletion | Acetylcholine receptors | Mutation | Dystrophy | Gene deletion | Proteinuria
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
1988, ISBN 2708403699, 16, xvi, 317
Book
Journal of the Atmospheric Sciences, ISSN 0022-4928, 06/2018, Volume 75, Issue 6, pp. 2139 - 2149
Journal Article
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