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Matthew E Hurles

Showing results (91-100 of 188) with videos related to

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The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Genome Biology|October 15, 2009
Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levelsIan Sudbery, Jim Stalker, Jared T Simpson, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa studyNadja Louw, Prince Makay, Phelelani T Mpangase, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Human Genetics|May 11, 2015
Copy number variation in the human Y chromosome in the UK populationWei Wei, Tomas W Fitzgerald, Tomas Fitzgerald, et al.
Science (New York, N.Y.)|February 10, 2007
Relative impact of nucleotide and copy number variation on gene expression phenotypesBarbara E Stranger, Matthew S Forrest, Mark Dunning, et al.
Human Molecular Genetics|November 27, 2014
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetesNicholas J Cooper, Corina J Shtir, Deborah J Smyth, et al.
European Journal of Human Genetics : EJHG|September 30, 2010
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groupsFrederick Delfin, Jazelyn M Salvador, Gayvelline C Calacal, et al.
Pageof 19

Showing results (91-100 of 188) with videos related to

Sort By:
Pageof 19
The Journal of Clinical Investigation|February 24, 2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cyclingKate Baker, Sarah L Gordon, Detelina Grozeva, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Genome Biology|October 15, 2009
Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levelsIan Sudbery, Jim Stalker, Jared T Simpson, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa studyNadja Louw, Prince Makay, Phelelani T Mpangase, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Human Genetics|May 11, 2015
Copy number variation in the human Y chromosome in the UK populationWei Wei, Tomas W Fitzgerald, Tomas Fitzgerald, et al.
Science (New York, N.Y.)|February 10, 2007
Relative impact of nucleotide and copy number variation on gene expression phenotypesBarbara E Stranger, Matthew S Forrest, Mark Dunning, et al.
Human Molecular Genetics|November 27, 2014
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetesNicholas J Cooper, Corina J Shtir, Deborah J Smyth, et al.
European Journal of Human Genetics : EJHG|September 30, 2010
The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groupsFrederick Delfin, Jazelyn M Salvador, Gayvelline C Calacal, et al.
Pageof 19