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Daniel G MacArthur

Showing results (81-90 of 216) with videos related to

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Genetics|September 10, 2009
Population differentiation as an indicator of recent positive selection in humans: an empirical evaluationYali Xue, Xuelong Zhang, Ni Huang, et al.
American Journal of Human Genetics|August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Human Molecular Genetics|May 4, 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingJane T Seto, Monkol Lek, Kate G R Quinlan, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Genome Biology|April 29, 2024
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genesNechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, et al.
International Journal of Epidemiology|September 11, 2019
Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani peopleSarah Finer, Hilary C Martin, Ahsan Khan, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Pageof 22

Showing results (81-90 of 216) with videos related to

Sort By:
Pageof 22
Genetics|September 10, 2009
Population differentiation as an indicator of recent positive selection in humans: an empirical evaluationYali Xue, Xuelong Zhang, Ni Huang, et al.
American Journal of Human Genetics|August 26, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Human Molecular Genetics|May 4, 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingJane T Seto, Monkol Lek, Kate G R Quinlan, et al.
American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Genome Biology|April 29, 2024
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genesNechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, et al.
International Journal of Epidemiology|September 11, 2019
Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani peopleSarah Finer, Hilary C Martin, Ahsan Khan, et al.
Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2016
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samplesRoddy Walsh, Kate L Thomson, James S Ware, et al.
American Journal of Human Genetics|August 27, 2019
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome AssemblySamantha J Bryen, Himanshu Joshi, Frances J Evesson, et al.
Pageof 22