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Robert K Koenekoop

Showing results (71-80 of 122) with videos related to

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American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Advances in Experimental Medicine and Biology|October 3, 2015
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal DystrophyDaan M Panneman, Rebekkah J Hitti-Malin, Martin McKibbin, et al.
Human Molecular Genetics|January 12, 2013
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophiesMika Asai-Coakwell, Lindsey March, Xiao Hua Dai, et al.
Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.
Science Advances|September 7, 2022
Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degenerationMaéva Langouët, Christine Jolicoeur, Awais Javed, et al.
Human Molecular Genetics|December 17, 2010
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinChristina F Chakarova, Hemant Khanna, Amna Z Shah, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamilyTalya Millo, Antonio Rivera, Alexey Obolensky, et al.
Human Mutation|July 18, 2017
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significanceZachry T Soens, Justin Branch, Shijing Wu, et al.
Pageof 13

Showing results (71-80 of 122) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|March 10, 2009
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosaHui Wang, Anneke I den Hollander, Yalda Moayedi, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.
Advances in Experimental Medicine and Biology|October 3, 2015
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP)Stephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal DystrophyDaan M Panneman, Rebekkah J Hitti-Malin, Martin McKibbin, et al.
Human Molecular Genetics|January 12, 2013
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophiesMika Asai-Coakwell, Lindsey March, Xiao Hua Dai, et al.
Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.
Science Advances|September 7, 2022
Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degenerationMaéva Langouët, Christine Jolicoeur, Awais Javed, et al.
Human Molecular Genetics|December 17, 2010
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinChristina F Chakarova, Hemant Khanna, Amna Z Shah, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamilyTalya Millo, Antonio Rivera, Alexey Obolensky, et al.
Human Mutation|July 18, 2017
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significanceZachry T Soens, Justin Branch, Shijing Wu, et al.
Pageof 13