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Daniel G MacArthur

Showing results (21-30 of 216) with videos related to

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Genes & Development|January 6, 2011
Gene inactivation and its implications for annotation in the era of personal genomicsSuganthi Balasubramanian, Lukas Habegger, Adam Frankish, et al.
The Journal of Clinical Endocrinology and Metabolism|August 2, 2013
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiencyThushiga Kasippillai, Daniel G MacArthur, Andrew Kirby, et al.
Neuromuscular Disorders : NMD|June 1, 2014
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Neuromuscular Disorders : NMD|January 25, 2015
ResponseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Nature Communications|August 31, 2017
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genesSuganthi Balasubramanian, Yao Fu, Mayur Pawashe, et al.
Plos One|June 19, 2008
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?Shira Amsili, Hagit Zer, Stephan Hinderlich, et al.
Practical Neurology|April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapyEoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Nature Communications|November 1, 2016
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projectsJames Zou, Gregory Valiant, Paul Valiant, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
Neuromuscular Disorders : NMD|June 26, 2016
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophyRoula Ghaoui, Tatiana Benavides, Monkol Lek, et al.
Pageof 22

Showing results (21-30 of 216) with videos related to

Sort By:
Pageof 22
Genes & Development|January 6, 2011
Gene inactivation and its implications for annotation in the era of personal genomicsSuganthi Balasubramanian, Lukas Habegger, Adam Frankish, et al.
The Journal of Clinical Endocrinology and Metabolism|August 2, 2013
Mutations in eIF4ENIF1 are associated with primary ovarian insufficiencyThushiga Kasippillai, Daniel G MacArthur, Andrew Kirby, et al.
Neuromuscular Disorders : NMD|June 1, 2014
Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth diseaseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Neuromuscular Disorders : NMD|January 25, 2015
ResponseManoj P Menezes, Leigh Waddell, Guy M Lenk, et al.
Nature Communications|August 31, 2017
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genesSuganthi Balasubramanian, Yao Fu, Mayur Pawashe, et al.
Plos One|June 19, 2008
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?Shira Amsili, Hagit Zer, Stephan Hinderlich, et al.
Practical Neurology|April 24, 2017
A 'limb-girdle muscular dystrophy' responsive to asthma therapyEoin Mulroy, Roula Ghaoui, David Hutchinson, et al.
Nature Communications|November 1, 2016
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projectsJames Zou, Gregory Valiant, Paul Valiant, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
Neuromuscular Disorders : NMD|June 26, 2016
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophyRoula Ghaoui, Tatiana Benavides, Monkol Lek, et al.
Pageof 22