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B Cummings

Showing results (271-280 of 287) with videos related to

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Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Science Translational Medicine|January 17, 2024
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disordersJulie C Ullman, Kevin T Mellem, Yannan Xi, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Pageof 29

Showing results (271-280 of 287) with videos related to

Sort By:
Pageof 29
Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Nature Medicine|January 23, 2021
Author Correction: The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Nature Medicine|May 29, 2020
The effect of LRRK2 loss-of-function variants in humansNicola Whiffin, Irina M Armean, Aaron Kleinman, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Science Translational Medicine|January 17, 2024
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disordersJulie C Ullman, Kevin T Mellem, Yannan Xi, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Pageof 29