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Eric A Pierce

Showing results (111-120 of 132) with videos related to

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Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, 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.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
The New England Journal of Medicine|April 29, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire, Francesca Simonelli, Eric A Pierce, 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.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, 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.
Pageof 14

Showing results (111-120 of 132) with videos related to

Sort By:
Pageof 14
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, 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.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
The New England Journal of Medicine|April 29, 2008
Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire, Francesca Simonelli, Eric A Pierce, 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.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, 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.
Pageof 14