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Manir Ali

Showing results (71-80 of 80) with videos related to

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Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
JAMA Ophthalmology|June 1, 2018
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular DegenerationLaura Lorés-Motta, Moeen Riaz, Michelle Grunin, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Communications Biology|March 2, 2021
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconusAlison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, 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.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 8

Showing results (71-80 of 80) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 80 results.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
JAMA Ophthalmology|June 1, 2018
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular DegenerationLaura Lorés-Motta, Moeen Riaz, Michelle Grunin, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
Frontiers in Cell and Developmental Biology|February 23, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisDaan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, et al.
Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Communications Biology|March 2, 2021
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconusAlison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, 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.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 8