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Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e20 - e21
Journal Article
Strabismus, ISSN 0927-3972, 07/2017, Volume 25, Issue 3, pp. 140 - 144
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1217 - 1222
Journal Article
Journal Article
Ophthalmic Plastic and Reconstructive Surgery, ISSN 0740-9303, 05/2019, p. 1
Journal Article
Clinical Ophthalmology, ISSN 1177-5467, 2019, Volume 13, pp. 465 - 475
To determine the pupil response of Best vitelliform macular dystrophy (BVMD) patients for focal blue and red light stimuli presented at 76 test points in a... 
Perimetry | Pupillary light reflex | Pupilloperimetry | Best vitelliform macular dystrophy | Visual field | Tomography | Light emitting diodes | Photoreceptors | Mutation | Ophthalmology | Best Vitelliform Macular Dystrophy | Pupillary Light Reflex | BVMD
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype–phenotype... 
Journal Article
Heart, ISSN 0007-1161, 05/2008, Volume 94, Issue 5, pp. 616 - 621
BackgroundFundus albipunctatus is a retinal dystrophy caused by a mutation in the gene encoding 11-cis-retinol dehydrogenase which delays the recovery of rod... 
VISUAL CYCLE | BETA-CAROTENE | GENE | ROD | MOUSE MODEL | OPHTHALMOLOGY | ACCUMULATION | LEBERS CONGENITAL AMAUROSIS | ALGA DUNALIELLA-BARDAWIL | VITAMIN-A | PHOTORECEPTORS
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
Purpose: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify... 
MUTATION ANALYSIS | IDENTIFY | USHER-SYNDROME | FAMILIES | OPHTHALMOLOGY | DOLICHOL | PREVALENCE | KINASE MAK | IDENTIFICATION | CILIARY LENGTH | DEGENERATION | Genetic research | Retinitis pigmentosa
Journal Article
Ophthalmic plastic and reconstructive surgery, 05/2019
To evaluate the efficacy of Müller's muscle-conjunctival resection combined with tarsectomy for the treatment of congenital ptosis. A retrospective,... 
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 07/2016, Volume 213, Issue 8, pp. 1429 - 1440
The analysis of individuals with telomere defects may shed light on the delicate interplay of factors controlling genome stability, premature aging, and... 
ZEBRAFISH EMBRYOS | MEDICINE, RESEARCH & EXPERIMENTAL | REPLICATION RESTART | COMPONENT 1 | HUMAN-CELLS | CTC1 MUTATIONS | END-PROTECTION | HUMAN CST | DUPLEX REPLICATION | IMMUNOLOGY | BONE-MARROW FAILURE | STRAND FILL-IN | Calcinosis - genetics | Central Nervous System Cysts - metabolism | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Seizures - genetics | Humans | Brain Neoplasms - pathology | Seizures - drug therapy | Male | Retinal Diseases - metabolism | Seizures - metabolism | Brain Neoplasms - metabolism | Muscle Spasticity - drug therapy | Leukoencephalopathies - drug therapy | Telomere-Binding Proteins - genetics | Seizures - pathology | Ataxia - drug therapy | Retinal Diseases - pathology | Female | Telomere - metabolism | Ataxia - genetics | Calcinosis - metabolism | Ataxia - metabolism | Ataxia - pathology | Disease Models, Animal | Telomere - genetics | Thalidomide - adverse effects | Leukoencephalopathies - pathology | Calcinosis - drug therapy | Telomere-Binding Proteins - biosynthesis | Brain Neoplasms - genetics | Zebrafish | Leukoencephalopathies - metabolism | Muscle Spasticity - metabolism | Thalidomide - administration & dosage | Brain Neoplasms - drug therapy | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Gene Expression Regulation - drug effects | Central Nervous System Cysts - drug therapy | Telomere - pathology | Animals | Mutation | Retinal Diseases - drug therapy | Calcinosis - pathology | Muscle Spasticity - genetics | Index Medicus | s
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1222 - 1223
In the original article, Table 1 included multiple editing errors. The corrected table has been included here and online. The authors regret the error. 
Journal Article