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Showing results (421-430 of 438) with videos related to

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Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
Lancet (London, England)|October 27, 2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialAlbert M Maguire, Katherine A High, Alberto Auricchio, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Lancet (London, England)|July 18, 2017
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trialStephen Russell, Jean Bennett, Jennifer A Wellman, et al.
Nature Medicine|April 5, 2022
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trialStephen R Russell, Arlene V Drack, Artur V Cideciyan, et al.
American Journal of Human Genetics|October 15, 2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathyStijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Pageof 44

Showing results (421-430 of 438) with videos related to

Sort By:
Pageof 44
Journal of Medical Genetics|September 12, 2006
Development of a genotyping microarray for Usher syndromeFrans P M Cremers, William J Kimberling, Maigi Külm, et al.
Lancet (London, England)|October 27, 2009
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialAlbert M Maguire, Katherine A High, Alberto Auricchio, et al.
Human Mutation|July 22, 2008
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndromeDiane Beysen, Sarah De Jaegere, David Amor, et al.
Lancet (London, England)|July 18, 2017
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trialStephen Russell, Jean Bennett, Jennifer A Wellman, et al.
Nature Medicine|April 5, 2022
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trialStephen R Russell, Arlene V Drack, Artur V Cideciyan, et al.
American Journal of Human Genetics|October 15, 2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathyStijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Translational Vision Science & Technology|August 25, 2020
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano SymposiumDebra A Thompson, Alessandro Iannaccone, Robin R Ali, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Pageof 44