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Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, pp. e88410 - e88410
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1715, pp. 61 - 78
Journal Article
Cell Death and Disease, ISSN 2041-4889, 03/2018, Volume 9, Issue 3, pp. 350 - 18
Journal Article
Experimental Eye Research, ISSN 0014-4835, 10/2019, Volume 187, pp. 107752 - 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 | Index Medicus
Journal Article
Journal of Investigative Medicine, ISSN 1708-8267, 03/2015, Volume 63, Issue 3, pp. 554 - 557
Journal Article
Journal of Community Genetics, ISSN 1868-310X, 7/2019, Volume 10, Issue 3, pp. 425 - 434
Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to... 
Human Genetics | Gene Function | Public Health | Biomedicine | Next-generation sequencing | Inherited retinal dystrophy | Gene Therapy | Incidental findings | Genomic testing | Epidemiology | Variant of uncertain significance | Social aspects | Usage | Genetic screening | Retina | Genomes | Diagnosis | Original
Journal Article