Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Advances in Experimental Medicine and Biology|December 30, 2019
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered SplicingIris Barny, Isabelle Perrault, Marlène Rio, et al.
Retina (Philadelphia, Pa.)|January 26, 2019
GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATIONAlexandra Mouallem-Beziere, Rocio Blanco-Garavito, Florence Richard, et al.
International Journal of Molecular Sciences|June 19, 2024
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic ConsequencesRene Moya, Clémentine Angée, Sylvain Hanein, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 geneGiuseppe Querques, Jennyfer Zerbib, Rossana Santacroce, et al.
The Journal of Gene Medicine|July 19, 2002
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)Fernanda B O Porto, Isabelle Perrault, David Hicks, et al.
Molecular Vision|May 3, 2014
Multimodal analysis of the progression of Best vitelliform macular dystrophyGiuseppe Querques, Jennyfer Zerbib, Anouk Georges, et al.
Genes|May 17, 2019
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?Iris Barny, Isabelle Perrault, Christel Michel, et al.
Retinal Cases & Brief Reports|May 26, 2017
RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROMEJennyfer Zerbib, Rocio Blanco Garavito, Sylvie Gerber, et al.
American Journal of Medical Genetics. Part A|May 7, 2024
ITPR1: The missing gene in miosis-ataxia syndrome?Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, et al.
Human Mutation|November 25, 2003
NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer, Sylvain Hanein, Valérie Raclin, et al.
Pageof 9