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Matthew E Hurles

Showing results (51-60 of 188) with videos related to

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Fetal Diagnosis and Therapy|January 22, 2020
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic EvaluationShahela S Kodabuckus, Elizabeth Quinlan-Jones, Dominic J McMullan, et al.
Genome Research|March 24, 2010
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genomeAaron R Quinlan, Royden A Clark, Svetlana Sokolova, et al.
American Journal of Human Genetics|October 28, 2005
Evidence for widespread reticulate evolution within human dupliconsMichael S Jackson, Karen Oliver, Jane Loveland, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Genome Research|December 21, 2013
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersDaniel A King, Tomas W Fitzgerald, Ray Miller, et al.
Genome Biology|June 21, 2007
Fast-evolving noncoding sequences in the human genomeChristine P Bird, Barbara E Stranger, Maureen Liu, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
Cell|June 13, 2020
Population Structure, Stratification, and Introgression of Human Structural VariationMohamed A Almarri, Anders Bergström, Javier Prado-Martinez, et al.
American Journal of Human Genetics|December 2, 2022
A minimal role for synonymous variation in human diseaseRyan S Dhindsa, Quanli Wang, Dimitrios Vitsios, et al.
Pageof 19

Showing results (51-60 of 188) with videos related to

Sort By:
Pageof 19
Fetal Diagnosis and Therapy|January 22, 2020
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic EvaluationShahela S Kodabuckus, Elizabeth Quinlan-Jones, Dominic J McMullan, et al.
Genome Research|March 24, 2010
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genomeAaron R Quinlan, Royden A Clark, Svetlana Sokolova, et al.
American Journal of Human Genetics|October 28, 2005
Evidence for widespread reticulate evolution within human dupliconsMichael S Jackson, Karen Oliver, Jane Loveland, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Genome Research|December 21, 2013
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersDaniel A King, Tomas W Fitzgerald, Ray Miller, et al.
Genome Biology|June 21, 2007
Fast-evolving noncoding sequences in the human genomeChristine P Bird, Barbara E Stranger, Maureen Liu, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
Cell|June 13, 2020
Population Structure, Stratification, and Introgression of Human Structural VariationMohamed A Almarri, Anders Bergström, Javier Prado-Martinez, et al.
American Journal of Human Genetics|December 2, 2022
A minimal role for synonymous variation in human diseaseRyan S Dhindsa, Quanli Wang, Dimitrios Vitsios, et al.
Pageof 19