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Showing results (51-60 of 62) with videos related to

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Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
American Journal of Human Genetics|June 13, 2009
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaJames S Friedman, Joseph W Ray, Naushin Waseem, et al.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Human Genetics|October 25, 2013
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsFeng Wang, Hui Wang, Han-Fang Tuan, et al.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, et al.
Nature Genetics|September 17, 2013
Identification of a rare coding variant in complement 3 associated with age-related macular degenerationXiaowei Zhan, David E Larson, Chaolong Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationWei Chen, Dwight Stambolian, Albert O Edwards, et al.
Human Molecular Genetics|June 6, 2014
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degenerationRinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
American Journal of Human Genetics|June 13, 2009
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaJames S Friedman, Joseph W Ray, Naushin Waseem, et al.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Human Genetics|October 25, 2013
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinementsFeng Wang, Hui Wang, Han-Fang Tuan, et al.
Translational Vision Science & Technology|August 27, 2025
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano SymposiumDebra A Thompson, K Thiran Jayasundera, Oleg Alekseev, et al.
Nature Genetics|September 17, 2013
Identification of a rare coding variant in complement 3 associated with age-related macular degenerationXiaowei Zhan, David E Larson, Chaolong Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 2010
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationWei Chen, Dwight Stambolian, Albert O Edwards, et al.
Human Molecular Genetics|June 6, 2014
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degenerationRinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Pageof 7