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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2231 - 2239
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 67 - 75
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2016, Volume 11, Issue 11, pp. e0166397 - e0166397
Purpose Mutations in the EYS gene are a common cause of autosomal recessive retinitis pigmentosa (arRP), yet the role of the EYS protein in humans is presently... 
CELLS | EYES | GENE | DYSTROPHY | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | MUTATIONS | DIFFERENTIATION | Retinitis pigmentosa | Pathogenesis | Fluorescence | Confocal microscopy | Retina | Macaque | Genomes | Rods | Confocal | Tissues | Human tissues | Data bases | Proteins | Epidermal growth factor | Penicillin | Localization | Ganglion cells | United Kingdom--UK | United States--US | Cloning | Drosophila | Centrosomes | Mammals | Gene expression | Polymerase chain reaction | Retinal ganglion cells | Cones | Insects | Microscopy | Isoforms | Cell lines | Photoreceptors | Cytoplasmic staining | Retinitis | Cell staining | Mutation | DAPI staining | Drosophila melanogaster | Fluorescence microscopy | Cytoplasm | Structure-function relationships | Western blotting | Axonemes | Macaca | Testes | Retina - metabolism | Axoneme - metabolism | Humans | Macaca - metabolism | Cytoplasm - metabolism | Retinal Rod Photoreceptor Cells - metabolism | Macaca - genetics | Axoneme - genetics | Axoneme - pathology | Protein Isoforms - metabolism | DNA Mutational Analysis | Retinal Cone Photoreceptor Cells - pathology | Cytoplasm - genetics | Eye Proteins - genetics | Indoles | Electroretinography | Cilia - pathology | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Cilia - metabolism | Cilia - genetics | Animals | Eye Proteins - metabolism | HeLa Cells | Retina - pathology | Retinal Cone Photoreceptor Cells - metabolism | Retinitis Pigmentosa - pathology | Retinal Rod Photoreceptor Cells - pathology | Protein Isoforms - genetics | RNA | Analysis | Index Medicus
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 321 - 330
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly... 
JOUBERT-SYNDROME | MUTATION ANALYSIS | CILIARY | LEBER CONGENITAL AMAUROSIS | GENE | MECKEL-SYNDROME |