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Showing results (131-140 of 150) with videos related to

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American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
American Journal of Ophthalmology|March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, 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.
Pageof 15

Showing results (131-140 of 150) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, et al.
Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
American Journal of Human Genetics|September 17, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseasesCarlo Rivolta, Elifnaz Celik, Dhryata Kamdar, et al.
Biorxiv : the Preprint Server for Biology|July 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
American Journal of Ophthalmology|March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, 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.
Pageof 15