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Ophthalmology, ISSN 0161-6420, 2011, Volume 118, Issue 7, pp. 1408 - 1415
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2008, Volume 146, Issue 1, pp. 146 - 146
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 11, pp. e13885 - e13885
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 05/2017, Volume 58, Issue 5, pp. 2510 - 2519
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 11/2016, Volume 17, Issue 9, pp. 2460 - 2473
Journal Article
Case Reports in Ophthalmology, ISSN 1663-2699, 07/2015, Volume 6, Issue 2, pp. 246 - 250
We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One... 
Published: July 2015 | Utility | Next-generation sequencing | Diagnosis | Choroideremia
Journal Article
Journal Article
Clinical & Experimental Ophthalmology, ISSN 1442-6404, 07/2008, Volume 36, Issue 5, pp. 437 - 442
Background:  Typical exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are two of the major macular diseases found... 
choroidal vasculopathy | age-related macular degeneration | genetic analysis | age‐related macular degeneration | Age-related macular degeneration | Choroidal vasculopathy | Genetic analysis | VARIANT INCREASES | CLINICOPATHOLOGICAL CORRELATION | PHOTODYNAMIC THERAPY | SUSCEPTIBILITY | CLINICAL CHARACTERISTICS | PROMOTER POLYMORPHISM | RISK | GENE POLYMORPHISM | COMPLEMENT FACTOR-H | NO ASSOCIATION | OPHTHALMOLOGY | Humans | Asian Continental Ancestry Group - genetics | Male | Exudates and Transudates - metabolism | Choroidal Neovascularization - pathology | Serine Endopeptidases - genetics | Vision, Binocular | Aged, 80 and over | Female | Retrospective Studies | Genetic Predisposition to Disease | Cross-Sectional Studies | High-Temperature Requirement A Serine Peptidase 1 | Genotype | Visual Acuity | Choroidal Neovascularization - physiopathology | Polymorphism, Genetic | Homozygote | Macular Degeneration - metabolism | Phenotype | Macular Degeneration - genetics | Alleles | Aged | Complement Factor H - genetics | Choroidal Neovascularization - genetics | Choroidal Neovascularization, pathology | Macular Degeneration, genetics | Asian Continental Ancestry Group, genetics | Choroidal Neovascularization, genetics | Choroidal Neovascularization, physiopathology | Complement Factor H, genetics | Exudates and Transudates, metabolism | Macular Degeneration, metabolism | Serine Endopeptidases, genetics | Macular degeneration | Physiological aspects | Genetic aspects | Index Medicus
Journal Article
Journal Article