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Samuel G Jacobson

Showing results (191-200 of 224) 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.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosaWilliam A Beltran, Artur V Cideciyan, Alfred S Lewin, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Gene Therapy|January 8, 2020
Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized <i>RPGR</i> Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis PigmentosaValérie L Dufour, Artur V Cideciyan, Guo-Jie Ye, et al.
Human Gene Therapy|September 1, 2006
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisSamuel G Jacobson, Sanford L Boye, Tomas S Aleman, et al.
American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.
Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, 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.
Pageof 23

Showing results (191-200 of 224) with videos related to

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Pageof 23
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.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosaWilliam A Beltran, Artur V Cideciyan, Alfred S Lewin, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Human Gene Therapy|January 8, 2020
Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized <i>RPGR</i> Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis PigmentosaValérie L Dufour, Artur V Cideciyan, Guo-Jie Ye, et al.
Human Gene Therapy|September 1, 2006
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosisSamuel G Jacobson, Sanford L Boye, Tomas S Aleman, et al.
American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.
Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, 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.
Pageof 23