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Ophthalmic Genetics|March 4, 2021
A homozygous POC1B variant causes recessive cone-rod dystrophyAnn-Marie C Peturson, Nicole C L Noel, Ian M MacDonald
Expert Opinion on Orphan Drugs|August 8, 2015
Pathogenic mechanisms and the prospect of gene therapy for choroideremiaIoannis S Dimopoulos, Stephanie Chan, Robert E MacLaren, et al.
Ophthalmic Genetics|May 23, 2020
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremiaKaylie D Jones, Alina Radziwon, David G Birch, et al.
Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)|January 10, 2013
An internet-based health survey on the co-morbidities of choroideremia patientsQi Zhou, Ekekiel Weis, Ming Ye, et al.
Molecular Vision|January 4, 2018
A targeted approach to genome-wide studies reveals new genetic associations with central corneal thicknessMatthew D Benson, Chiea C Khor, Philip J Gage, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|September 18, 2010
Effect of docosahexaenoic acid supplementation on the macular function of patients with Best vitelliform macular dystrophy: randomized clinical trialThomas K M Lee, M Thomas Clandinin, Marc Hébert, et al.
Current Opinion in Ophthalmology|May 19, 2017
ChoroideremiaIoannis S Dimopoulos, Alina Radziwon, Chris D St Laurent, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|August 19, 2007
Clinical and functional findings in choroideremia due to complete deletion of the CHM geneMarco Mura, Christina Sereda, Monica M Jablonski, et al.
Retina (Philadelphia, Pa.)|August 12, 2017
THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIAIoannis S Dimopoulos, Paul R Freund, Jacob A Knowles, et al.
Investigative Ophthalmology & Visual Science|August 28, 2009
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese familyNingdong Li, Han Mei, Ian M MacDonald, et al.
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