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Plos Genetics
|
September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
Janine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Science Translational Medicine
|
February 11, 2012
AAV2 gene therapy readministration in three adults with congenital blindness
Jean Bennett, Manzar Ashtari, Jennifer Wellman, et al.
Human Mutation
|
March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Katherine V Towns, Athina Kipioti, Vernon Long, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Clinical Genetics
|
October 30, 2020
WDR34, a candidate gene for non-syndromic rod-cone dystrophy
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
December 3, 2009
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration
Francesca Simonelli, Albert M Maguire, Francesco Testa, et al.
Human Molecular Genetics
|
August 9, 2022
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration
Maura A Crowley, Donita L Garland, Holger Sellner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Ophthalmology
|
June 17, 2022
Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial
Tomas S Aleman, Rachel M Huckfeldt, Leona W Serrano, et al.
Lancet (London, England)
|
July 5, 2016
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
Jean Bennett, Jennifer Wellman, Kathleen A Marshall, et al.
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Search research articles
Search
Showing results (101-110 of 132) with videos related to
Sort By:
Page
of 14
Plos Genetics
|
September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen
Janine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
Science Translational Medicine
|
February 11, 2012
AAV2 gene therapy readministration in three adults with congenital blindness
Jean Bennett, Manzar Ashtari, Jennifer Wellman, et al.
Human Mutation
|
March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Katherine V Towns, Athina Kipioti, Vernon Long, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Clinical Genetics
|
October 30, 2020
WDR34, a candidate gene for non-syndromic rod-cone dystrophy
Maria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
December 3, 2009
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration
Francesca Simonelli, Albert M Maguire, Francesco Testa, et al.
Human Molecular Genetics
|
August 9, 2022
Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration
Maura A Crowley, Donita L Garland, Holger Sellner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Ophthalmology
|
June 17, 2022
Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial
Tomas S Aleman, Rachel M Huckfeldt, Leona W Serrano, et al.
Lancet (London, England)
|
July 5, 2016
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
Jean Bennett, Jennifer Wellman, Kathleen A Marshall, et al.
Page
of 14