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Peter Charbel Issa

Showing results (221-230 of 231) with videos related to

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Ophthalmology Science|February 27, 2023
Macular Telangiectasia Type 2: A Classification System Using MultiModal Imaging MacTel Project Report Number 10Emily Y Chew, Tunde Peto, Traci E Clemons, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Mutation|June 21, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophyAdnan H Khan, Janice Sutton, Angela J Cree, et al.
Ophthalmic Research|November 28, 2019
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)Jasleen K Jolly, Siegfried K Wagner, Peter Martus, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 24

Showing results (221-230 of 231) with videos related to

Sort By:
Pageof 24
Ophthalmology Science|February 27, 2023
Macular Telangiectasia Type 2: A Classification System Using MultiModal Imaging MacTel Project Report Number 10Emily Y Chew, Tunde Peto, Traci E Clemons, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Mutation|June 21, 2021
Prevalence and phenotype associations of complement factor I mutations in geographic atrophyAdnan H Khan, Janice Sutton, Angela J Cree, et al.
Ophthalmic Research|November 28, 2019
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)Jasleen K Jolly, Siegfried K Wagner, Peter Martus, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndromeChristine Neuhaus, Tobias Eisenberger, Christian Decker, et al.
The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, et al.
The Journal of Clinical Investigation|January 19, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathySarah L Stenton, Natalia L Sheremet, Claudia B Catarino, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 24