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Samuel G Jacobson

Showing results (201-210 of 224) with videos related to

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Human Gene Therapy|December 7, 2011
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of conceptAstra Dinculescu, Jackie Estreicher, Juan C Zenteno, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 29, 2006
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injectionSamuel G Jacobson, Gregory M Acland, Gustavo D Aguirre, et al.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.
Human Gene Therapy|March 23, 2013
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012Marina O'Reilly, Donald B Kohn, Jeffrey Bartlett, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
The Journal of Clinical Investigation|March 27, 2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka A Rachel, Helen L May-Simera, Shobi Veleri, et al.
Pageof 23

Showing results (201-210 of 224) with videos related to

Sort By:
Pageof 23
Human Gene Therapy|December 7, 2011
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of conceptAstra Dinculescu, Jackie Estreicher, Juan C Zenteno, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 29, 2006
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injectionSamuel G Jacobson, Gregory M Acland, Gustavo D Aguirre, et al.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, et al.
Human Gene Therapy|March 23, 2013
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012Marina O'Reilly, Donald B Kohn, Jeffrey Bartlett, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
The Journal of Clinical Investigation|March 27, 2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisRivka A Rachel, Helen L May-Simera, Shobi Veleri, et al.
Pageof 23