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Genetics in Medicine, ISSN 1098-3600, 11/2011, Volume 13, Issue 11, pp. 966 - 972
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 08/2019, Volume 204, pp. 90 - 96
To describe the motivations, expectations, and other factors men with X-linked retinoschisis (XLRS) consider when making decisions to participate in an early... 
OPHTHALMOLOGY | INFORMED-CONSENT | BENEFIT | EXPECTATIONS | PERCEPTIONS | Decision-making | Clinical trials | Research institutes | Gene therapy | Analysis | Genes | Studies | Participation | Decision making | Religion | Informed consent | Altruism | Ophthalmology | Interviews
Journal Article
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e67 - e67
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e49 - e49
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2011, Volume 48, Issue 11, pp. 767 - 775
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 2841 - 2847
PURPOSE. To examine the symmetry of structural and functional parameters between eyes in patients with X-linked retinoschisis (XLRS), as well as changes in... 
Natural history | X-linked retinoschisis | Longitudinal | CONGENITAL RETINOSCHISIS | OPTICAL COHERENCE TOMOGRAPHY | MOUSE | NATURAL-HISTORY | natural history | XLRS1 GENE | VOLUME MEASUREMENTS | MUTATION | OPHTHALMOLOGY | JUVENILE RETINOSCHISIS | GENE-THERAPY | longitudinal | EXPRESSION | Retina
Journal Article
Ophthalmology, ISSN 0161-6420, 02/2019, Volume 126, Issue 2, pp. 296 - 304
To characterize the ocular phenotype of syndrome. Prospective, single-center, case-control study. One hundred three patients with an identified germline... 
Journal Article
Ophthalmology, ISSN 0161-6420, 02/2019, Volume 126, Issue 2, pp. 296 - 304
Purpose: To characterize the ocular phenotype of DICER1 syndrome. Design: Prospective, single-center, case-control study. Participants: One hundred three... 
SURVIVAL | EPITHELIUM | OPHTHALMOLOGY | PLEUROPULMONARY BLASTOMA | ISCEV STANDARD | MUTATIONS | MICRORNAS | MEDULLOEPITHELIOMA | CILIARY BODY
Journal Article
Journal of AAPOS, ISSN 1091-8531, 06/2019, Volume 23, Issue 3, pp. 163 - 165.e1
Multi-gene panel testing is used increasingly in ophthalmology practice as an efficient and cost-effective method for diagnosing inherited eye conditions.... 
PHENOTYPE | OPHTHALMOLOGY | PEDIATRICS | GENOTYPE | DISEASE | Medical research | Analysis | Genes | Medical genetics | Genetic research | Medicine, Experimental | Pediatric ophthalmology | Index Medicus
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2011, Volume 52, Issue 12, pp. 9250 - 9256
Journal Article