G Jacobson|C E Nordgren - JoVE Visualize

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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.

Investigative Ophthalmology & Visual Science|August 10, 1999

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degenerationC A Lewis, I R Batlle, K G Batlle, et al.

Investigative Ophthalmology & Visual Science|November 30, 2000

Genetics and phenotypes of RPE65 mutations in inherited retinal degenerationD A Thompson, P Gyürüs, L L Fleischer, 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.

Pageof 57

Showing results (431-440 of 561) with videos related to

Sort By:

Pageof 57

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.

Investigative Ophthalmology & Visual Science|August 10, 1999

Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degenerationC A Lewis, I R Batlle, K G Batlle, et al.

Investigative Ophthalmology & Visual Science|November 30, 2000

Genetics and phenotypes of RPE65 mutations in inherited retinal degenerationD A Thompson, P Gyürüs, L L Fleischer, 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.

Pageof 57