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Showing results (481-490 of 493) with videos related to

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American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
Nature Communications|May 25, 2016
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Shahid Y Khan, Shivakumar Vasanth, Firoz Kabir, et al.
American Journal of Human Genetics|April 14, 2009
Null mutations in LTBP2 cause primary congenital glaucomaManir Ali, Martin McKibbin, Adam Booth, et al.
Investigative Ophthalmology & Visual Science|April 19, 2017
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani FamiliesLin Li, Yabin Chen, Xiaodong Jiao, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2009
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of BarbadosXiaodong Jiao, Zhenglin Yang, Xian Yang, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
Physical Review Letters|January 22, 2002
L-H transition in the mega-amp spherical tokamakR J Akers, G F Counsell, A Sykes, et al.
Plos Genetics|October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysisPooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Pageof 50

Showing results (481-490 of 493) with videos related to

Sort By:
Pageof 50
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
Nature Communications|May 25, 2016
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Shahid Y Khan, Shivakumar Vasanth, Firoz Kabir, et al.
American Journal of Human Genetics|April 14, 2009
Null mutations in LTBP2 cause primary congenital glaucomaManir Ali, Martin McKibbin, Adam Booth, et al.
Investigative Ophthalmology & Visual Science|April 19, 2017
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani FamiliesLin Li, Yabin Chen, Xiaodong Jiao, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2009
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of BarbadosXiaodong Jiao, Zhenglin Yang, Xian Yang, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
Physical Review Letters|January 22, 2002
L-H transition in the mega-amp spherical tokamakR J Akers, G F Counsell, A Sykes, et al.
Plos Genetics|October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysisPooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Pageof 50