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Edwin M Stone

Showing results (371-380 of 384) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Genetics|October 29, 2010
Genome-wide analysis of copy number variants in age-related macular degenerationKacie J Meyer, Lea K Davis, Emily I Schindler, et al.
Investigative Ophthalmology & Visual Science|February 12, 2011
Copy number variations and primary open-angle glaucomaLea K Davis, Kacie J Meyer, Emily I Schindler, et al.
Human Molecular Genetics|October 24, 2015
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosisAdam P DeLuca, S Scott Whitmore, Jenna Barnes, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 17, 2017
Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal DegenerationErin R Burnight, Manav Gupta, Luke A Wiley, et al.
Nature Genetics|July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeKirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Ophthalmology|October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.
Pageof 39

Showing results (371-380 of 384) with videos related to

Sort By:
Pageof 39
Proceedings of the National Academy of Sciences of the United States of America|September 24, 2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kineticsArtur V Cideciyan, Tomas S Aleman, Sanford L Boye, et al.
Human Genetics|October 29, 2010
Genome-wide analysis of copy number variants in age-related macular degenerationKacie J Meyer, Lea K Davis, Emily I Schindler, et al.
Investigative Ophthalmology & Visual Science|February 12, 2011
Copy number variations and primary open-angle glaucomaLea K Davis, Kacie J Meyer, Emily I Schindler, et al.
Human Molecular Genetics|October 24, 2015
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosisAdam P DeLuca, S Scott Whitmore, Jenna Barnes, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 17, 2017
Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal DegenerationErin R Burnight, Manav Gupta, Luke A Wiley, et al.
Nature Genetics|July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeKirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Ophthalmology|October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
Human Mutation|November 4, 2014
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variantNathalie M Bax, Riccardo Sangermano, Susanne Roosing, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.
Pageof 39