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Human Mutation|April 13, 2026
Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDelsWei Han, Qingzhen Zhang, Xiaochang Zhang, et al.Human Mutation|May 8, 2026
Deubiquitination of ETV4 by USP7 Promotes NSCLC Tumorigenesis via MAPK7 ActivationXue Meng, Jiaxi Zhang, Ning Zhang, et al.Human Mutation|May 11, 2026
Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome SequencingJianlong Zhuang, Nan Huang, Yu E Chen, et al.Human Mutation|May 20, 2026
Integrative Genomic and Functional Analysis Reveals NF1 Loss as a Modifier of DNA Damage and Replication Stress Responses in Ovarian CancerShan He, Chengfeng Liu, Zhenyi Li, et al.Human Mutation|May 21, 2026
Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys-Dietz Syndrome: A Novel TGFBR1 VariantYuchong Zhang, Shouji Qiu, Chengkai Hu, et al.Human Mutation|May 14, 2026
Decoding Pathogenic Mutational Landscapes in Alzheimer's Disease Through Integrated TranscriptomicsWan Ma, Fenfang Zhou, Huaying Cai, et al.Human Mutation|October 30, 2018
Genotype and phenotype variability in Sjögren-Larsson syndromeMaximilian Weustenfeld, Reiner Eidelpes, Matthias Schmuth, et al.Human Mutation|January 1, 1997
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasiaP Concannon, R A GattiHuman Mutation|January 1, 1997
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overviewM St-Louis, R M TanguayHuman Mutation|May 22, 2026
Bifidobacterium breve Promotes the Pathogenesis of IBS by Downregulating the Expression of Ferroptosis-Related Molecule ERBB1: A Mendelian Randomization Mediation AnalysisLian Mo, Yue Wu, Yan Zhou, et al.Pageof 578