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Edwin M Stone

Showing results (281-290 of 384) with videos related to

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JAMA Ophthalmology|February 16, 2013
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290J Jason McAnany, Mohamed A Genead, Saloni Walia, et al.
Vision Research|November 13, 2004
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundusLawrence H Pinto, Martha Hotz Vitaterna, Sanda M Siepka, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2002
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationAnn H Milam, Linda Rose, Artur V Cideciyan, et al.
American Journal of Human Genetics|December 29, 2005
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura, Ruth E Swiderski, Charles C Searby, et al.
The Journal of Clinical Investigation|August 4, 2015
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaGulab S Zode, Markus H Kuehn, Darryl Y Nishimura, et al.
Biorxiv : the Preprint Server for Biology|July 3, 2023
GENE EXPRESSION WITHIN A HUMAN CHOROIDAL NEOVASCULAR MEMBRANE USING SPATIAL TRANSCRIPTOMICSAndrew P Voigt, Nathaniel K Mullin, Emma M Navratil, et al.
Microvascular Research|June 13, 2020
Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotypeAndrew P Voigt, S Scott Whitmore, Kelly Mulfaul, et al.
Molecular Genetics and Metabolism|January 12, 2016
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesNancy E Braverman, Gerald V Raymond, William B Rizzo, et al.
Human Gene Therapy|July 13, 2016
Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal DegenerationLuke A Wiley, Erin R Burnight, Arlene V Drack, et al.
Human Mutation|June 8, 2007
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisArtur V Cideciyan, Tomas S Aleman, Samuel G Jacobson, et al.
Pageof 39

Showing results (281-290 of 384) with videos related to

Sort By:
Pageof 39
JAMA Ophthalmology|February 16, 2013
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290J Jason McAnany, Mohamed A Genead, Saloni Walia, et al.
Vision Research|November 13, 2004
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundusLawrence H Pinto, Martha Hotz Vitaterna, Sanda M Siepka, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 5, 2002
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationAnn H Milam, Linda Rose, Artur V Cideciyan, et al.
American Journal of Human Genetics|December 29, 2005
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura, Ruth E Swiderski, Charles C Searby, et al.
The Journal of Clinical Investigation|August 4, 2015
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaGulab S Zode, Markus H Kuehn, Darryl Y Nishimura, et al.
Biorxiv : the Preprint Server for Biology|July 3, 2023
GENE EXPRESSION WITHIN A HUMAN CHOROIDAL NEOVASCULAR MEMBRANE USING SPATIAL TRANSCRIPTOMICSAndrew P Voigt, Nathaniel K Mullin, Emma M Navratil, et al.
Microvascular Research|June 13, 2020
Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotypeAndrew P Voigt, S Scott Whitmore, Kelly Mulfaul, et al.
Molecular Genetics and Metabolism|January 12, 2016
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesNancy E Braverman, Gerald V Raymond, William B Rizzo, et al.
Human Gene Therapy|July 13, 2016
Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal DegenerationLuke A Wiley, Erin R Burnight, Arlene V Drack, et al.
Human Mutation|June 8, 2007
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisArtur V Cideciyan, Tomas S Aleman, Samuel G Jacobson, et al.
Pageof 39