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Samuel G Jacobson

Showing results (121-130 of 224) with videos related to

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Human Molecular Genetics|July 2, 2004
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degenerationSamuel G Jacobson, Alexander Sumaroka, Tomas S Aleman, et al.
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.
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.
European Journal of Human Genetics : EJHG|February 21, 2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky, Tanja Grau, Antje Bernd, et al.
Plos One|November 5, 2016
Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and BlindGeoffrey K Aguirre, Ritobrato Datta, Noah C Benson, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 30, 2021
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosisGustavo D Aguirre, Artur V Cideciyan, Valérie L Dufour, 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.
American Journal of Human Genetics|February 8, 2011
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsLina Zelinger, Eyal Banin, Alexey Obolensky, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 29, 2021
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosisGustavo D Aguirre, Artur V Cideciyan, Valérie L Dufour, et al.
Human Molecular Genetics|February 26, 2015
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerationsNing Zhang, Yaroslav Tsybovsky, Alexander V Kolesnikov, et al.
Pageof 23

Showing results (121-130 of 224) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|July 2, 2004
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degenerationSamuel G Jacobson, Alexander Sumaroka, Tomas S Aleman, et al.
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.
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.
European Journal of Human Genetics : EJHG|February 21, 2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky, Tanja Grau, Antje Bernd, et al.
Plos One|November 5, 2016
Patterns of Individual Variation in Visual Pathway Structure and Function in the Sighted and BlindGeoffrey K Aguirre, Ritobrato Datta, Noah C Benson, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 30, 2021
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosisGustavo D Aguirre, Artur V Cideciyan, Valérie L Dufour, 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.
American Journal of Human Genetics|February 8, 2011
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsLina Zelinger, Eyal Banin, Alexey Obolensky, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 29, 2021
Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosisGustavo D Aguirre, Artur V Cideciyan, Valérie L Dufour, et al.
Human Molecular Genetics|February 26, 2015
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerationsNing Zhang, Yaroslav Tsybovsky, Alexander V Kolesnikov, et al.
Pageof 23