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Monkol Lek

Showing results (141-150 of 153) with videos related to

Pageof 16
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Nature|August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, Konrad J Karczewski, Eric V Minikel, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Communications|January 10, 2018
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitnessSara M Willems, Daniel J Wright, Felix R Day, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature|September 15, 2016
High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Nature Communications|August 10, 2016
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|November 17, 2017
Corrigendum: High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
The landscape of tolerated genetic variation in humans and primatesHong Gao, Tobias Hamp, Jeffrey Ede, et al.
Science (New York, N.Y.)|June 1, 2023
The landscape of tolerated genetic variation in humans and primatesHong Gao, Tobias Hamp, Jeffrey Ede, et al.
Pageof 16

Showing results (141-150 of 153) with videos related to

Sort By:
Pageof 16
Nature|August 19, 2016
Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, Konrad J Karczewski, Eric V Minikel, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Communications|January 10, 2018
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitnessSara M Willems, Daniel J Wright, Felix R Day, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature|September 15, 2016
High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Nature Communications|August 10, 2016
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|November 17, 2017
Corrigendum: High-throughput discovery of novel developmental phenotypesMary E Dickinson, Ann M Flenniken, Xiao Ji, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
The landscape of tolerated genetic variation in humans and primatesHong Gao, Tobias Hamp, Jeffrey Ede, et al.
Science (New York, N.Y.)|June 1, 2023
The landscape of tolerated genetic variation in humans and primatesHong Gao, Tobias Hamp, Jeffrey Ede, et al.
Pageof 16