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Journal Article
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
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
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2014, Volume 55, Issue 9, pp. 5636 - 5636
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
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
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
亚洲男性学杂志:英文版, ISSN 1008-682X, 2015, Volume 17, Issue 5, pp. 855 - 856
Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Index Medicus | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article