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David N Cooper

Showing results (71-80 of 398) with videos related to

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Human Genomics|December 14, 2011
Human genetics and genomics a decade after the release of the draft sequence of the human genomeNasheen Naidoo, Yudi Pawitan, Richie Soong, et al.
Human Genomics|August 17, 2013
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1Stephen E Hamby, Pablo Reviriego, David N Cooper, et al.
BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.
Personalized Medicine|May 23, 2018
Critical appraisal of the private genetic and pharmacogenomic testing environment in GreeceAggeliki Sagia, David N Cooper, Konstantinos Poulas, et al.
Gut|May 8, 2021
NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C>T) variant in chronic pancreatitisEmmanuelle Génin, David N Cooper, Emmanuelle Masson, et al.
Human Genomics|June 30, 2011
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited diseaseStephen E Hamby, Nick S T Thomas, David N Cooper, et al.
Human Genomics|June 23, 2017
The NF1 somatic mutational landscape in sporadic human cancersCharlotte Philpott, Hannah Tovell, Ian M Frayling, et al.
Genomic Medicine|October 17, 2008
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritisSabine Leybrand, Eva Rossier, Gotthold Barbi, et al.
Human Genetics|January 4, 2014
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversionTanja Mussotter, Kathrin Bengesser, Josef Högel, et al.
Journal of Pediatric Hematology/Oncology|May 22, 2003
Prenatal exclusion of severe factor VII deficiencyHany Ariffin, David S Millar, David N Cooper, et al.
Pageof 40

Showing results (71-80 of 398) with videos related to

Sort By:
Pageof 40
Human Genomics|December 14, 2011
Human genetics and genomics a decade after the release of the draft sequence of the human genomeNasheen Naidoo, Yudi Pawitan, Richie Soong, et al.
Human Genomics|August 17, 2013
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1Stephen E Hamby, Pablo Reviriego, David N Cooper, et al.
BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.
Personalized Medicine|May 23, 2018
Critical appraisal of the private genetic and pharmacogenomic testing environment in GreeceAggeliki Sagia, David N Cooper, Konstantinos Poulas, et al.
Gut|May 8, 2021
NGS mismapping confounds the clinical interpretation of the <i>PRSS1</i> p.Ala16Val (c.47C>T) variant in chronic pancreatitisEmmanuelle Génin, David N Cooper, Emmanuelle Masson, et al.
Human Genomics|June 30, 2011
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited diseaseStephen E Hamby, Nick S T Thomas, David N Cooper, et al.
Human Genomics|June 23, 2017
The NF1 somatic mutational landscape in sporadic human cancersCharlotte Philpott, Hannah Tovell, Ian M Frayling, et al.
Genomic Medicine|October 17, 2008
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritisSabine Leybrand, Eva Rossier, Gotthold Barbi, et al.
Human Genetics|January 4, 2014
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversionTanja Mussotter, Kathrin Bengesser, Josef Högel, et al.
Journal of Pediatric Hematology/Oncology|May 22, 2003
Prenatal exclusion of severe factor VII deficiencyHany Ariffin, David S Millar, David N Cooper, et al.
Pageof 40