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Advances in Experimental Medicine and Biology|March 26, 2014
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
Molecular Vision|May 2, 2003
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) geneSara J Bowne, Stephen P Daiger, Kimberly A Malone, et al.
American Journal of Human Genetics|February 25, 2014
Exome-based mapping and variant prioritization for inherited Mendelian disordersDaniel C Koboldt, David E Larson, Lori S Sullivan, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingSara J Bowne, Lori S Sullivan, Daniel C Koboldt, et al.
American Journal of Human Genetics|May 11, 2010
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaS Amer Riazuddin, Muhammad Iqbal, Yue Wang, et al.
Advances in Experimental Medicine and Biology|October 3, 2015
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Ophthalmology. Retina|January 19, 2020
X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis PigmentosaAbigail T Fahim, Lori S Sullivan, Sara J Bowne, et al.
Investigative Ophthalmology & Visual Science|June 27, 2006
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori S Sullivan, Sara J Bowne, David G Birch, et al.
Investigative Ophthalmology & Visual Science|May 27, 2017
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United StatesLori S Sullivan, Sara J Bowne, Daniel C Koboldt, et al.
Investigative Ophthalmology & Visual Science|September 6, 2014
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosaLori S Sullivan, Daniel C Koboldt, Sara J Bowne, et al.
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