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G Jacobson

Showing results (661-670 of 677) with videos related to

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Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 2, 2017
Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR MutationsWilliam A Beltran, Artur V Cideciyan, Shannon E Boye, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, 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.
American Journal of Human Genetics|September 6, 2001
CNGA3 mutations in hereditary cone photoreceptor disordersB Wissinger, D Gamer, H Jägle, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Nature Medicine|December 19, 2018
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectArtur V Cideciyan, Samuel G Jacobson, Arlene V Drack, et al.
Pageof 68

Showing results (661-670 of 677) with videos related to

Sort By:
Pageof 68
Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 2, 2017
Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR MutationsWilliam A Beltran, Artur V Cideciyan, Shannon E Boye, et al.
American Journal of Human Genetics|May 5, 2009
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in miceDavid A Parry, Carmel Toomes, Lina Bida, 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.
American Journal of Human Genetics|September 6, 2001
CNGA3 mutations in hereditary cone photoreceptor disordersB Wissinger, D Gamer, H Jägle, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Investigative Ophthalmology & Visual Science|November 15, 2012
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseKari Branham, Mohammad Othman, Matthew Brumm, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 27, 2022
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacyBernd Wissinger, Britta Baumann, Elena Buena-Atienza, et al.
Nature Medicine|December 19, 2018
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectArtur V Cideciyan, Samuel G Jacobson, Arlene V Drack, et al.
Pageof 68