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Anupreet Tumber

Showing results (11-20 of 25) with videos related to

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Genes|September 28, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping PhenotypesZhuo Shao, Ikuo Masuho, Anupreet Tumber, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|January 19, 2025
Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosisAlaa Tayyib, Deepika C Parameswarappa, Peter J Kertes, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|February 12, 2026
Gene therapy outcomes in young patients with RPE65-retinal degenerationKirk A J Stephenson, Abrar K Alsalamah, Anupreet Tumber, et al.
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 28, 2025
Detecting congenital chiasmal misrouting using multichannel VEPs: protocol for a scoping reviewGiulia Steuernagel Del Valle, Haipha Ali, John R Grigg, et al.
Clinical Genetics|December 29, 2025
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related PhenotypeKirk A J Stephenson, Zhuo Shao, Anupreet Tumber, et al.
American Journal of Human Genetics|April 12, 2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessAjoy Vincent, Isabelle Audo, Erika Tavares, et al.
Journal of Neurology|February 20, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stageAlessandro Orsini, Daniele Ferrari, Antonella Riva, 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.
Investigative Ophthalmology & Visual Science|June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal RetinoschisisAjoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Genes|September 28, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in <i>MCCC1</i> and <i>GNB5</i> Causing Overlapping PhenotypesZhuo Shao, Ikuo Masuho, Anupreet Tumber, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|January 19, 2025
Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosisAlaa Tayyib, Deepika C Parameswarappa, Peter J Kertes, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|February 12, 2026
Gene therapy outcomes in young patients with RPE65-retinal degenerationKirk A J Stephenson, Abrar K Alsalamah, Anupreet Tumber, et al.
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 28, 2025
Detecting congenital chiasmal misrouting using multichannel VEPs: protocol for a scoping reviewGiulia Steuernagel Del Valle, Haipha Ali, John R Grigg, et al.
Clinical Genetics|December 29, 2025
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related PhenotypeKirk A J Stephenson, Zhuo Shao, Anupreet Tumber, et al.
American Journal of Human Genetics|April 12, 2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessAjoy Vincent, Isabelle Audo, Erika Tavares, et al.
Journal of Neurology|February 20, 2022
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stageAlessandro Orsini, Daniele Ferrari, Antonella Riva, 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.
Investigative Ophthalmology & Visual Science|June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal RetinoschisisAjoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Pageof 3