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Elise Heon

Showing results (51-60 of 87) with videos related to

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Human Molecular Genetics|November 1, 2017
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147Andrina Stäubli, Nadejda Capatina, Yvonne Fuhrer, et al.
Blood|January 8, 2017
Biallelic mutations in <i>DNAJC21</i> cause Shwachman-Diamond syndromeSanthosh Dhanraj, Anna Matveev, Hongbing Li, et al.
Investigative Ophthalmology & Visual Science|December 22, 2023
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5Randa T H Li, Alejandro J Roman, Alexander Sumaroka, et al.
Human Molecular Genetics|October 5, 2012
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsSamuel G Jacobson, Artur V Cideciyan, Igor V Peshenko, et al.
NPJ Genomic Medicine|March 28, 2026
A novel phenotype-guided genome analysis pipeline for variant discoveryLayla Ahmed, Erika Tavares, Janice Min Li, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2005
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy successSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 13, 2007
Human cone photoreceptor dependence on RPE65 isomeraseSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task ForceArlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
American Journal of Ophthalmology|December 22, 2023
Functional Vision in Patients With Biallelic USH2A VariantsElise Heon, Michele Melia, Laura E Bocchino, et al.
Clinical Genetics|August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosaAnna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.
Pageof 9

Showing results (51-60 of 87) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|November 1, 2017
Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147Andrina Stäubli, Nadejda Capatina, Yvonne Fuhrer, et al.
Blood|January 8, 2017
Biallelic mutations in <i>DNAJC21</i> cause Shwachman-Diamond syndromeSanthosh Dhanraj, Anna Matveev, Hongbing Li, et al.
Investigative Ophthalmology & Visual Science|December 22, 2023
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5Randa T H Li, Alejandro J Roman, Alexander Sumaroka, et al.
Human Molecular Genetics|October 5, 2012
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsSamuel G Jacobson, Artur V Cideciyan, Igor V Peshenko, et al.
NPJ Genomic Medicine|March 28, 2026
A novel phenotype-guided genome analysis pipeline for variant discoveryLayla Ahmed, Erika Tavares, Janice Min Li, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2005
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy successSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 13, 2007
Human cone photoreceptor dependence on RPE65 isomeraseSamuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|June 25, 2019
Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task ForceArlene V Drack, Virginia Miraldi Utz, Kai Wang, et al.
American Journal of Ophthalmology|December 22, 2023
Functional Vision in Patients With Biallelic USH2A VariantsElise Heon, Michele Melia, Laura E Bocchino, et al.
Clinical Genetics|August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosaAnna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.
Pageof 9