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Matthew E Hurles

Showing results (181-190 of 190) with videos related to

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Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.
Nature|February 5, 2011
Mapping copy number variation by population-scale genome sequencingRyan E Mills, Klaudia Walter, Chip Stewart, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature|July 18, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Nature|June 6, 2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|November 7, 2008
Accurate whole human genome sequencing using reversible terminator chemistryDavid R Bentley, Shankar Balasubramanian, Harold P Swerdlow, et al.
Nature|April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nick Craddock, Matthew E Hurles, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
Pageof 19

Showing results (181-190 of 190) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 190 results.
Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.
Nature|February 5, 2011
Mapping copy number variation by population-scale genome sequencingRyan E Mills, Klaudia Walter, Chip Stewart, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature|July 18, 2020
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Nature|June 6, 2020
Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames E D Thaventhiran, Hana Lango Allen, Oliver S Burren, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|November 7, 2008
Accurate whole human genome sequencing using reversible terminator chemistryDavid R Bentley, Shankar Balasubramanian, Harold P Swerdlow, et al.
Nature|April 3, 2010
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, Nick Craddock, Matthew E Hurles, et al.
Nature|March 18, 2005
The DNA sequence of the human X chromosomeMark T Ross, Darren V Grafham, Alison J Coffey, et al.
Pageof 19