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Showing results (71-80 of 242) with videos related to

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Nature Genetics|July 21, 2015
Genomic landscape of cutaneous T cell lymphomaJaehyuk Choi, Gerald Goh, Trent Walradt, et al.
Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.
Science Translational Medicine|January 14, 2021
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (<i>MANBA</i>) expression and disease severityXiangchen Gu, Hongliu Yang, Xin Sheng, et al.
Human Molecular Genetics|September 6, 2013
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemiaYoung H Lim, Diana Ovejero, Jeffrey S Sugarman, et al.
Nature Genetics|August 6, 2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismUte I Scholl, Gerald Goh, Gabriel Stölting, et al.
Nature Genetics|April 2, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndromeMathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, et al.
American Journal of Human Genetics|May 5, 2018
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesJeffrey Staples, Evan K Maxwell, Nehal Gosalia, et al.
Nature|April 8, 2026
Population-scale repeat expansions elucidate disease risk and brain atrophyVijay Kumar Pounraja, Jae Hoon Sul, Joseph Herman, et al.
The New England Journal of Medicine|March 3, 2016
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery DiseaseFrederick E Dewey, Viktoria Gusarova, Colm O'Dushlaine, et al.
Nature Genetics|August 9, 2023
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosisSirui Zhou, Olukayode A Sosina, Jonas Bovijn, et al.
Pageof 25

Showing results (71-80 of 242) with videos related to

Sort By:
Pageof 25
Nature Genetics|July 21, 2015
Genomic landscape of cutaneous T cell lymphomaJaehyuk Choi, Gerald Goh, Trent Walradt, et al.
Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.
Science Translational Medicine|January 14, 2021
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (<i>MANBA</i>) expression and disease severityXiangchen Gu, Hongliu Yang, Xin Sheng, et al.
Human Molecular Genetics|September 6, 2013
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemiaYoung H Lim, Diana Ovejero, Jeffrey S Sugarman, et al.
Nature Genetics|August 6, 2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismUte I Scholl, Gerald Goh, Gabriel Stölting, et al.
Nature Genetics|April 2, 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndromeMathieu Lemaire, Véronique Frémeaux-Bacchi, Franz Schaefer, et al.
American Journal of Human Genetics|May 5, 2018
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 ExomesJeffrey Staples, Evan K Maxwell, Nehal Gosalia, et al.
Nature|April 8, 2026
Population-scale repeat expansions elucidate disease risk and brain atrophyVijay Kumar Pounraja, Jae Hoon Sul, Joseph Herman, et al.
The New England Journal of Medicine|March 3, 2016
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery DiseaseFrederick E Dewey, Viktoria Gusarova, Colm O'Dushlaine, et al.
Nature Genetics|August 9, 2023
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosisSirui Zhou, Olukayode A Sosina, Jonas Bovijn, et al.
Pageof 25