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Nature Communications|November 6, 2021
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptakeMagdalena Zimoń, Yunfeng Huang, Anthi Trasta, et al.Plos One|March 19, 2013
A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosisKilian Friedrich, Christian Rupp, Johannes Roksund Hov, et al.Nature Communications|February 26, 2024
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depressionRuoyu Tian, Tian Ge, Hyeokmoon Kweon, et al.Hepatology (Baltimore, Md.)|September 11, 2008
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adultsDaniel Gotthardt, Heiko Runz, Verena Keitel, et al.Plos Genetics|February 4, 2015
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarctionAenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, et al.Scientific Reports|August 3, 2023
A FinnGen pilot clinical recall study for Alzheimer's diseaseValtteri Julkunen, Claudia Schwarz, Juho Kalapudas, et al.Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Loss of <i>CFHR5</i> function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.Nature Communications|October 14, 2022
Genetic map of regional sulcal morphology in the human brain from UK biobank dataBenjamin B Sun, Stephanie J Loomis, Fabrizio Pizzagalli, et al.Nature Communications|July 2, 2025
Loss of CFHR5 function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.Pageof 10