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European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1424 - 1431
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
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. v - v
Journal Article
Brain : a journal of neurology, ISSN 0006-8950, 06/2019, Volume 142, Issue 6, pp. 1528 - 1534
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of... 
foveal hypoplasia | AHR | consanguinity | nystagmus | DOMAIN | VARIANTS | RECEPTOR | LOCUS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | GENE | FRMD7 | MAPS | CONGENITAL NYSTAGMUS | TRANSACTIVATION
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2014, Volume 55, Issue 9, pp. 5636 - 5636
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2019, Volume 207, pp. 204 - 214
To describe the genetic and phenotypic characteristics of a cohort of patients with variants. Case-case study. We screened a cohort of 2216 families with... 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 10/2018, Volume 21, Issue 8, pp. 1998 - 1998
The original version of this Article contained an error in the spelling of the author Anja K. Mayer, which was incorrectly given as Anja Kathrin Mayer. This... 
Index Medicus
Journal Article
BMC MEDICAL GENOMICS, ISSN 1755-8794, 08/2019, Volume 12, Issue 1, pp. 123 - 123
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1028 - 1028
The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the... 
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1188 - 1196
Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1 ,... 
Leber congenital amaurosis | 5′UTR variants | NMNAT1 | LCA9 | Alu‐mediated deletions | Alu-mediated deletions | AMAUROSIS | 5'-UTR | 5 ' UTR variants | DISEASE | GENETICS & HEREDITY | EXPRESSION | TOOL | Life Sciences
Journal Article
Genes, ISSN 2073-4425, 05/2019, Volume 10, Issue 5, p. 363
The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G>A, p.(Gly56Arg) or G56R, underlies 1%-2% of cases with... 
putative dominant negative effect | retinitis pigmentosa | G56R | allele-specific knockdown | autosomal dominant | NR2E3 | gapmer antisense oligonucleotides
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 18025 - 18025
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare disorder usually caused by heterozygous mutations in the iron-responsive element (IRE) in the... 
MESSENGER-RNA | GENE | FAMILIES | MULTIDISCIPLINARY SCIENCES | LIGHT-CHAIN | PHENOTYPE | MOLECULAR FINDINGS | BINDING | LENS | WEB SERVER | Index Medicus
Journal Article