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Avi Fellner

Showing results (21-30 of 28) with videos related to

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Molecular Genetics & Genomic Medicine|March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingBianca R Grosz, Stephen Tisch, Michel C Tchan, et al.
Movement Disorders Clinical Practice|March 18, 2024
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive DystoniaShadi El-Wahsh, Avi Fellner, Matthew Hobbs, et al.
European Journal of Neurology|January 29, 2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical CharacteristicsAmir Dori, Odelia Chorin, Noa Ruhrman-Shahar, et al.
European Journal of Neurology|December 22, 2021
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemiaLiat Salzer-Sheelo, Avi Fellner, Naama Orenstein, et al.
Science Advances|March 4, 2022
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencingIgor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2020
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care centerRachel Michaelson-Cohen, Liat Salzer-Sheelo, Rivka Sukenik-Halevy, et al.
European Journal of Neurology|June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From IsraelDror Shir, Noa Bregman, Aya Bar David, et al.
Parkinsonism & Related Disorders|May 21, 2024
Genome sequencing reanalysis increases the diagnostic yield in dystoniaAvi Fellner, Gurusidheshwar M Wali, Neil Mahant, et al.
Pageof 3

Showing results (21-30 of 28) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 28 results.
Molecular Genetics & Genomic Medicine|March 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicingBianca R Grosz, Stephen Tisch, Michel C Tchan, et al.
Movement Disorders Clinical Practice|March 18, 2024
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive DystoniaShadi El-Wahsh, Avi Fellner, Matthew Hobbs, et al.
European Journal of Neurology|January 29, 2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical CharacteristicsAmir Dori, Odelia Chorin, Noa Ruhrman-Shahar, et al.
European Journal of Neurology|December 22, 2021
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemiaLiat Salzer-Sheelo, Avi Fellner, Naama Orenstein, et al.
Science Advances|March 4, 2022
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencingIgor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2020
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care centerRachel Michaelson-Cohen, Liat Salzer-Sheelo, Rivka Sukenik-Halevy, et al.
European Journal of Neurology|June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From IsraelDror Shir, Noa Bregman, Aya Bar David, et al.
Parkinsonism & Related Disorders|May 21, 2024
Genome sequencing reanalysis increases the diagnostic yield in dystoniaAvi Fellner, Gurusidheshwar M Wali, Neil Mahant, et al.
Pageof 3