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Paul Yang

Showing results (141-150 of 162) with videos related to

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Biorxiv : the Preprint Server for Biology|February 15, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Human Molecular Genetics|February 22, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Investigative Ophthalmology & Visual Science|December 15, 2018
Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 MonthsMark E Pennesi, David G Birch, K Thiran Jayasundera, et al.
Lancet (London, England)|September 7, 2024
Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation studyPaul Yang, Laura P Pardon, Allen C Ho, et al.
JAMA Ophthalmology|September 6, 2019
Phenotypic Spectrum of Pentosan Polysulfate Sodium-Associated Maculopathy: A Multicenter StudyAdam M Hanif, Stephen T Armenti, Stanford C Taylor, et al.
Human Molecular Genetics|March 7, 2024
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseasesDaniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, et al.
Ophthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.
American Journal of Ophthalmology|October 1, 2018
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 GeneDaniel C Chung, Mette Bertelsen, Birgit Lorenz, et al.
Ophthalmic Genetics|April 14, 2026
Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterizationJia-Horung Hung, Quan Dong Nguyen, Chao-Kai Hsu, 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.
Pageof 17

Showing results (141-150 of 162) with videos related to

Sort By:
Pageof 17
Biorxiv : the Preprint Server for Biology|February 15, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Human Molecular Genetics|February 22, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Investigative Ophthalmology & Visual Science|December 15, 2018
Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 MonthsMark E Pennesi, David G Birch, K Thiran Jayasundera, et al.
Lancet (London, England)|September 7, 2024
Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation studyPaul Yang, Laura P Pardon, Allen C Ho, et al.
JAMA Ophthalmology|September 6, 2019
Phenotypic Spectrum of Pentosan Polysulfate Sodium-Associated Maculopathy: A Multicenter StudyAdam M Hanif, Stephen T Armenti, Stanford C Taylor, et al.
Human Molecular Genetics|March 7, 2024
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseasesDaniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, et al.
Ophthalmic Genetics|January 7, 2025
Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international studyOgul E Uner, Radwa Elsharawi, Margaret Reynolds, et al.
American Journal of Ophthalmology|October 1, 2018
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 GeneDaniel C Chung, Mette Bertelsen, Birgit Lorenz, et al.
Ophthalmic Genetics|April 14, 2026
Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterizationJia-Horung Hung, Quan Dong Nguyen, Chao-Kai Hsu, 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.
Pageof 17