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American Journal of Ophthalmology|November 9, 2004
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI geneAnthony J Aldave, Julie G Gutmark, Vivek S Yellore, et al.
Journal of Vitreoretinal Diseases|April 3, 2023
Genetics and Age-Related Eye Disease Study Formulation Interaction in Neovascular Age-Related Macular DegenerationStephen R Kaufman, Pradeepa Yoganathan, Kent W Small, et al.
Investigative Ophthalmology & Visual Science|August 18, 2025
Elevated PRDM13 Disrupts Photoreceptor Function and Survival in the Mammalian RetinaEmily R Nettesheim, Ashley A Rowe, Tiffany Yee, et al.
Cornea|May 4, 2006
No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid depositionAnthony J Aldave, Sylvia A Rayner, Julie A King, et al.
Biochemical and Biophysical Research Communications|July 9, 2002
Alu DNA polymorphism in ACE gene is protective for age-related macular degenerationHamdi K Hamdi, Jacob Reznik, Raquel Castellon, et al.
Molecular Vision|September 16, 2021
A novel duplication involving <i>PRDM13</i> in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)Kent W Small, Stijn Van de Sompele, Karen Nuytemans, et al.
Molecular Vision|February 17, 2025
A novel <i>PRDM13</i> gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican familyOscar Francisco Chacon-Camacho, Luis Leonardo Flores-Lagunes, Kent W Small, et al.
Ophthalmology|October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
American Journal of Human Genetics|October 15, 2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathyStijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, et al.
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