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Matthew Hurles

Showing results (11-20 of 33) with videos related to

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Nature|May 11, 2022
Genetic and chemotherapeutic influences on germline hypermutationJoanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.
Nature Communications|June 2, 2015
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanismsAlexej Abyzov, Shantao Li, Daniel Rhee Kim, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.
Plos Genetics|January 23, 2016
Consent Codes: Upholding Standard Data Use ConditionsStephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
Nature Genetics|November 23, 2006
Genome assembly comparison identifies structural variants in the human genomeRazi Khaja, Junjun Zhang, Jeffrey R MacDonald, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Nature|May 11, 2022
Genetic and chemotherapeutic influences on germline hypermutationJoanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.
Nature Communications|June 2, 2015
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanismsAlexej Abyzov, Shantao Li, Daniel Rhee Kim, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Managing clinically significant findings in research: the UK10K exampleJane Kaye, Matthew Hurles, Heather Griffin, et al.
Plos Genetics|January 23, 2016
Consent Codes: Upholding Standard Data Use ConditionsStephanie O M Dyke, Anthony A Philippakis, Jordi Rambla De Argila, et al.
Nature Genetics|November 23, 2006
Genome assembly comparison identifies structural variants in the human genomeRazi Khaja, Junjun Zhang, Jeffrey R MacDonald, et al.
Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Nature Genetics|December 18, 2019
Loss of ADAMTS19 causes progressive non-syndromic heart valve diseaseFlorian Wünnemann, Asaf Ta-Shma, Christoph Preuss, et al.
Pageof 4