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Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, Issue S255, p. n/a
Purpose To study the different genotypes and phenotypes in Belgian patients with albinism. Methods Phenotypes and genotypes in a cohort of 89 patients were... 
Genotype | Phenotype | Genetic aspects | Albinism | Analysis | Genotype & phenotype
Journal Article
Plos Genetics, ISSN 1553-7404, 2011, Volume 7, Issue 7, pp. e1002178 - e1002178
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, pp. 1151 - 1160
PURPOSE: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied... 
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 | 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
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 5, pp. 426 - 429
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 5, pp. 569 - 586
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2014, Volume 92, Issue s253
Whole exome sequencing (WES) in a patient with autosomal recessive retinitis pigmentosa (arRP) revealed a missense mutation in the Echinoderm Microtubule... 
Retinitis pigmentosa | Genes | Respiratory distress syndrome | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 981 - 992
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 6, pp. 1375 - 1385
Journal Article
Journal Article