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Elise Heon

Showing results (31-40 of 87) with videos related to

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American Journal of Ophthalmology|June 29, 2018
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG MutationGiacomo Calzetti, Richard A Levy, Artur V Cideciyan, et al.
Human Molecular Genetics|March 25, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Elise Heon, Gunhee Kim, Sophie Qin, et al.
Scientific Reports|December 5, 2020
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSami Tabbarah, Erika Tavares, Jason Charish, et al.
Plos One|January 4, 2017
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, et al.
Investigative Ophthalmology & Visual Science|January 2, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Human Molecular Genetics|January 5, 2002
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaRobyn V Jamieson, Rahat Perveen, Bronwyn Kerr, et al.
Investigative Ophthalmology & Visual Science|April 26, 2003
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17Prasuna Paluru, Shawn M Ronan, Elise Heon, et al.
American Journal of Ophthalmology|February 19, 2017
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsSamuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|January 2, 2007
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|December 13, 2022
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 MutationsArtur V Cideciyan, Samuel G Jacobson, Malgorzata Swider, et al.
Pageof 9

Showing results (31-40 of 87) with videos related to

Sort By:
Pageof 9
American Journal of Ophthalmology|June 29, 2018
Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG MutationGiacomo Calzetti, Richard A Levy, Artur V Cideciyan, et al.
Human Molecular Genetics|March 25, 2016
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Elise Heon, Gunhee Kim, Sophie Qin, et al.
Scientific Reports|December 5, 2020
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damageSami Tabbarah, Erika Tavares, Jason Charish, et al.
Plos One|January 4, 2017
Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, et al.
Investigative Ophthalmology & Visual Science|January 2, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutationsSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Human Molecular Genetics|January 5, 2002
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaRobyn V Jamieson, Rahat Perveen, Bronwyn Kerr, et al.
Investigative Ophthalmology & Visual Science|April 26, 2003
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17Prasuna Paluru, Shawn M Ronan, Elise Heon, et al.
American Journal of Ophthalmology|February 19, 2017
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsSamuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, et al.
Investigative Ophthalmology & Visual Science|January 2, 2007
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, et al.
Investigative Ophthalmology & Visual Science|December 13, 2022
Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 MutationsArtur V Cideciyan, Samuel G Jacobson, Malgorzata Swider, et al.
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