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Investigative Ophthalmology & Visual Science|February 2, 2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaJennifer D Churchill, Sara J Bowne, Lori S Sullivan, et al.Human Molecular Genetics|July 3, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusJose L Badano, Jun Chul Kim, Bethan E Hoskins, et al.Investigative Ophthalmology & Visual Science|July 29, 2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani, Athanasios J Karoukis, Joyce E Young, et al.The Journal of Biological Chemistry|January 6, 2016
Novel Interaction Mechanism of a Domain Antibody-based Inhibitor of Human Vascular Endothelial Growth Factor with Greater Potency than Ranibizumab and Bevacizumab and Improved Capacity over AfliberceptAdam Walker, Chun-Wa Chung, Margarete Neu, et al.American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.Molecular Genetics and Metabolism|February 22, 2008
Generalized metabolic bone disease in Neurofibromatosis type INicola Brunetti-Pierri, Stephen B Doty, John Hicks, et al.Molecular Vision|January 6, 2012
Exome capture sequencing identifies a novel mutation in BBS4Hui Wang, Xianfeng Chen, Lynn Dudinsky, et al.The American Journal of Cardiology|August 30, 2005
Effectiveness of the concomitant use of bivalirudin and drug-eluting stents (from the prospective, multicenter BivAlirudin and Drug-Eluting STents [ADEST] study)George Dangas, Zoran Lasic, Roxana Mehran, et al.Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.American Journal of Human Genetics|August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeAnna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.Pageof 11