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Mathieu Quinodoz

Showing results (21-30 of 83) with videos related to

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American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Human Mutation|December 10, 2020
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IVVirginie G Peter, Mathieu Quinodoz, Silvia Sadio, et al.
Human Mutation|November 1, 2022
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IVVirginie G Peter, Mathieu Quinodoz, Silvia Sadio, et al.
Cancers|March 25, 2022
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug ScreeningKatya Nardou, Michael Nicolas, Fabien Kuttler, et al.
Med (New York, N.Y.)|March 31, 2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screeningAlexey Koval, Yonika A Larasati, Mikhail Savitsky, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
Ophthalmic Genetics|August 10, 2022
A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndromeMuhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, et al.
Ebiomedicine|March 6, 2018
Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasisGiulia Fregni, Mathieu Quinodoz, Emely Möller, et al.
Molecular Medicine (Cambridge, Mass.)|May 27, 2026
Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosaPeggy Reuter, Jennifer Schroeder, Marc Sturm, et al.
American Journal of Ophthalmology Case Reports|August 21, 2025
Early-onset macular drusen, a monogenic form of age-related macular degenerationLisa M George, Mathur Ranjana, Mathieu Quinodoz, et al.
Pageof 9

Showing results (21-30 of 83) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Human Mutation|December 10, 2020
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IVVirginie G Peter, Mathieu Quinodoz, Silvia Sadio, et al.
Human Mutation|November 1, 2022
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IVVirginie G Peter, Mathieu Quinodoz, Silvia Sadio, et al.
Cancers|March 25, 2022
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug ScreeningKatya Nardou, Michael Nicolas, Fabien Kuttler, et al.
Med (New York, N.Y.)|March 31, 2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screeningAlexey Koval, Yonika A Larasati, Mikhail Savitsky, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
Ophthalmic Genetics|August 10, 2022
A new nonsense mutation in <i>HMX1</i> in two siblings with oculoauricular syndromeMuhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, et al.
Ebiomedicine|March 6, 2018
Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasisGiulia Fregni, Mathieu Quinodoz, Emely Möller, et al.
Molecular Medicine (Cambridge, Mass.)|May 27, 2026
Systematic functional evaluation of CNGA1 missense variants associated with retinitis pigmentosaPeggy Reuter, Jennifer Schroeder, Marc Sturm, et al.
American Journal of Ophthalmology Case Reports|August 21, 2025
Early-onset macular drusen, a monogenic form of age-related macular degenerationLisa M George, Mathur Ranjana, Mathieu Quinodoz, et al.
Pageof 9