Showing results (21-30 of 60) with videos related to

Sort By:
Pageof 6
Investigative Ophthalmology & Visual Science|October 22, 2008
Mutation survey of known LCA genes and loci in the Saudi Arabian populationYumei Li, Hui Wang, Jianlan Peng, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmiaLisa A Schimmenti, June de la Cruz, Richard Alan Lewis, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsSvetlana A Yatsenko, Diane Treadwell-Deering, Kevin Krull, et al.
Molecular Genetics and Metabolism|June 4, 2011
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutationsChristian P Schaaf, Maria Blazo, Richard Alan Lewis, et al.
Investigative Ophthalmology & Visual Science|January 31, 2002
Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPaul S Bernstein, Mark Leppert, Nanda Singh, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
A genome-wide screen for copy number alterations in Aicardi syndromeXiaoling Wang, V Reid Sutton, Tanya N Eble, et al.
Ophthalmology|August 3, 2012
Risk of cataract in persons with cytomegalovirus retinitis and the acquired immune deficiency syndromeJohn H Kempen, Elizabeth A Sugar, Alice T Lyon, et al.
Investigative Ophthalmology & Visual Science|March 28, 2006
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humansCarla Bidinost, Natalie Hernandez, Deepak P Edward, et al.
American Journal of Medical Genetics. Part A|February 9, 2010
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical managementDaniel T Swarr, Douglas Bloom, Richard Alan Lewis, et al.
American Journal of Human Genetics|May 23, 2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritanceNicholas Katsanis, Erica R Eichers, Stephen J Ansley, et al.
Pageof 6