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Human Genetics|July 16, 2024
Automatized detection of uniparental disomies in a large cohortJohanna Moch, Maximilian Radtke, Thomas Liehr, et al.Human Genetics|July 27, 2024
Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing lossYun Xiao, Lei Chen, Kaifan Xu, et al.Human Genetics|August 27, 2024
Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiationMatilde Tirelli, Ferdinando Bonfiglio, Sueva Cantalupo, et al.Human Genetics|June 8, 2024
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadiasKexin Zhang, Shengxiong Wang, Ying Qiu, et al.Human Genetics|June 20, 2024
R2ROC: an efficient method of comparing two or more correlated AUC from out-of-sample prediction using polygenic scoresMd Moksedul Momin, Naomi R Wray, S Hong LeeHuman Genetics|August 14, 2023
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targetsAndrea Roso-Mares, Isabel Andújar, Tania Díaz Corpas, et al.Human Genetics|October 2, 2023
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasisJulia Scholda, Thi Thuy Anh Nguyen, Florian KoppHuman Genetics|September 27, 2023
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidenceKarina C Silveira, Inara Chacon Fonseca, Connor Oborn, et al.Human Genetics|September 27, 2023
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degenerationKari J Ekenstedt, Katie M Minor, G Diane Shelton, et al.Human Genetics|September 28, 2023
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammationShiyi Wang, Xinpeng Deng, Yuefei Wu, et al.Pageof 958