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Daniel G MacArthur

Showing results (121-130 of 216) with videos related to

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Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Nature|August 3, 2022
Transcriptome variation in human tissues revealed by long-read sequencingDafni A Glinos, Garrett Garborcauskas, Paul Hoffman, et al.
Journal of the American Society of Nephrology : JASN|November 17, 2019
<i>TBC1D8B</i> Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic SyndromeLina L Kampf, Ronen Schneider, Lea Gerstner, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2015
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signalingHeide Christine Patterson, Carolin Gerbeth, Prathapan Thiru, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Genome Research|May 9, 2015
The landscape of genomic imprinting across diverse adult human tissuesYael Baran, Meena Subramaniam, Anne Biton, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Human Genetics|August 31, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsKathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
Pageof 22

Showing results (121-130 of 216) with videos related to

Sort By:
Pageof 22
Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Nature|August 3, 2022
Transcriptome variation in human tissues revealed by long-read sequencingDafni A Glinos, Garrett Garborcauskas, Paul Hoffman, et al.
Journal of the American Society of Nephrology : JASN|November 17, 2019
<i>TBC1D8B</i> Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic SyndromeLina L Kampf, Ronen Schneider, Lea Gerstner, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2015
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signalingHeide Christine Patterson, Carolin Gerbeth, Prathapan Thiru, et al.
Bone|July 26, 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouseNan Yang, Aaron Schindeler, Michelle M McDonald, et al.
Genome Research|May 9, 2015
The landscape of genomic imprinting across diverse adult human tissuesYael Baran, Meena Subramaniam, Anne Biton, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
American Journal of Human Genetics|August 31, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsKathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
Pageof 22