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Eye (Basingstoke), ISSN 0950-222X, 2018, Volume 33, Issue 5, pp. 693 - 694
Journal Article
Journal Article
BMC medical genetics, ISSN 1471-2350, 11/2018, Volume 19, Issue 1, pp. 195 - 195
BackgroundTo describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n=9) with X-linked retinoschisis... 
Inherited maculopathy | Inherited retinal dystrophy | Retinoschisin | X-linked Retinoschisis | PATHOGENICITY | GENETICS & HEREDITY | JUVENILE RETINOSCHISIS | MUTATIONS | XLRS1 GENE | PREDICTION | Macular Degeneration - diagnostic imaging | Retinoschisis - complications | Humans | Middle Aged | Eye Proteins - chemistry | Male | Retinoschisis - diagnostic imaging | Base Sequence | Multimodal Imaging - methods | Female | Eye Proteins - genetics | Retinoschisis - pathology | Severity of Illness Index | Gene Expression | Macular Degeneration - complications | Retinoschisis - genetics | Models, Molecular | Genotype | Disease Progression | Protein Folding | Phenotype | Eye Proteins - metabolism | Macular Degeneration - genetics | Pedigree | Adolescent | Protein Conformation | Aged | Mutation | Amino Acid Substitution | Macular Degeneration - pathology | Gene mutations | Identification and classification | Health aspects | Electrophysiology | Retina | Family medical history | Kinases | Males | Cell adhesion & migration | Acuity | Proteins | Atrophy | Genotype & phenotype | Protein folding | Genetic analysis | Tomography | Localization | Bioinformatics | Genotypes | Phenotypes | Medical imaging | Retinoschisis | Visual field | Patients | Pathology | Point mutation | Retinal degeneration | Gene mapping | DNA sequencing | Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2015, Volume 125, Issue 7, pp. 2891 - 2903
Journal Article
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 09/2018, Volume 136, Issue 9, pp. e182640 - e182640
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2016, Volume 57, Issue 6, pp. 2637 - 2646
Journal Article
Human Gene Therapy, ISSN 1043-0342, 05/2016, Volume 27, Issue 5, pp. 376 - 389
Journal Article