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David N Cooper

Showing results (311-320 of 398) with videos related to

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Molecular Genetics & Genomic Medicine|January 22, 2020
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancyXiao-Lei Shi, Qi Yang, Na Pu, et al.
Human Genomics|December 19, 2012
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health careAngus J Clarke, David N Cooper, Michael Krawczak, et al.
Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Nature Communications|October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority scoreRobert Chen, Áine Duffy, Ben O Petrazzini, et al.
Nucleic Acids Research|May 23, 2006
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal regionAlbino Bacolla, Jack R Collins, Bert Gold, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|August 15, 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study groupEmmanuelle Masson, Wen-Bin Zou, Na Pu, et al.
Human Genetics|May 24, 2015
The somatic autosomal mutation matrix in cancer genomesNuri A Temiz, Duncan E Donohue, Albino Bacolla, et al.
Human Genetics|June 14, 2015
Erratum to: The somatic autosomal mutation matrix in cancer genomesNuri A Temiz, Duncan E Donohue, Albino Bacolla, et al.
Circulation. Cardiovascular Genetics|July 18, 2013
Interpreting secondary cardiac disease variants in an exome cohortDavid Ng, Jennifer J Johnston, Jamie K Teer, et al.
Frontiers in Genetics|June 7, 2021
DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other CancersIgor B Rogozin, Abiel Roche-Lima, Kathrin Tyryshkin, et al.
Pageof 40

Showing results (311-320 of 398) with videos related to

Sort By:
Pageof 40
Molecular Genetics & Genomic Medicine|January 22, 2020
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancyXiao-Lei Shi, Qi Yang, Na Pu, et al.
Human Genomics|December 19, 2012
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health careAngus J Clarke, David N Cooper, Michael Krawczak, et al.
Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Nature Communications|October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority scoreRobert Chen, Áine Duffy, Ben O Petrazzini, et al.
Nucleic Acids Research|May 23, 2006
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal regionAlbino Bacolla, Jack R Collins, Bert Gold, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|August 15, 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study groupEmmanuelle Masson, Wen-Bin Zou, Na Pu, et al.
Human Genetics|May 24, 2015
The somatic autosomal mutation matrix in cancer genomesNuri A Temiz, Duncan E Donohue, Albino Bacolla, et al.
Human Genetics|June 14, 2015
Erratum to: The somatic autosomal mutation matrix in cancer genomesNuri A Temiz, Duncan E Donohue, Albino Bacolla, et al.
Circulation. Cardiovascular Genetics|July 18, 2013
Interpreting secondary cardiac disease variants in an exome cohortDavid Ng, Jennifer J Johnston, Jamie K Teer, et al.
Frontiers in Genetics|June 7, 2021
DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other CancersIgor B Rogozin, Abiel Roche-Lima, Kathrin Tyryshkin, et al.
Pageof 40