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Human Mutation
|
February 16, 2012
Next-generation genetic testing for retinitis pigmentosa
Kornelia 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 monochromacy
Bernd 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 Syndrome
Mariana 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 pigmentosa
James 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 Symposium
Debra 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 refinements
Feng 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 Symposium
Debra 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 degeneration
Xiaowei 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 degeneration
Wei 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 degeneration
Rinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
Human Mutation
|
February 16, 2012
Next-generation genetic testing for retinitis pigmentosa
Kornelia 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 monochromacy
Bernd 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 Syndrome
Mariana 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 pigmentosa
James 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 Symposium
Debra 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 refinements
Feng 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 Symposium
Debra 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 degeneration
Xiaowei 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 degeneration
Wei 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 degeneration
Rinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Page
of 7