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Matthew E Hurles

Showing results (131-140 of 190) with videos related to

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The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset EncephalopathyMikko Muona, Ryosuke Ishimura, Anni Laari, et al.
Science Translational Medicine|January 10, 2024
Prospective study design and data analysis in UK BiobankNaomi E Allen, Ben Lacey, Deborah A Lawlor, et al.
Science (New York, N.Y.)|September 29, 2007
Paired-end mapping reveals extensive structural variation in the human genomeJan O Korbel, Alexander Eckehart Urban, Jason P Affourtit, et al.
Genome Research|November 24, 2006
Accurate and reliable high-throughput detection of copy number variation in the human genomeHeike Fiegler, Richard Redon, Dan Andrews, et al.
Nature Genetics|April 29, 2008
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencingPeter J Campbell, Philip J Stephens, Erin D Pleasance, et al.
Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Plos Genetics|April 5, 2013
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1Alexandra M Lopes, Kenneth I Aston, Emma Thompson, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Pageof 19

Showing results (131-140 of 190) with videos related to

Sort By:
Pageof 19
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset EncephalopathyMikko Muona, Ryosuke Ishimura, Anni Laari, et al.
Science Translational Medicine|January 10, 2024
Prospective study design and data analysis in UK BiobankNaomi E Allen, Ben Lacey, Deborah A Lawlor, et al.
Science (New York, N.Y.)|September 29, 2007
Paired-end mapping reveals extensive structural variation in the human genomeJan O Korbel, Alexander Eckehart Urban, Jason P Affourtit, et al.
Genome Research|November 24, 2006
Accurate and reliable high-throughput detection of copy number variation in the human genomeHeike Fiegler, Richard Redon, Dan Andrews, et al.
Nature Genetics|April 29, 2008
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencingPeter J Campbell, Philip J Stephens, Erin D Pleasance, et al.
Nature|October 9, 2009
Origins and functional impact of copy number variation in the human genomeDonald F Conrad, Dalila Pinto, Richard Redon, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Plos Genetics|April 5, 2013
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1Alexandra M Lopes, Kenneth I Aston, Emma Thompson, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Pageof 19