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Human mutation

Showing results (1141-1150 of 5,734) with videos related to

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Human Mutation|January 1, 1996
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophyB Hess, S Kafert, U Heinisch, et al.
Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.
Human Mutation|August 3, 2000
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductaseP Goyette, R Rozen
Human Mutation|June 8, 2026
Toward Precision Acupuncture for Pain: Host Genetic Variability, Omics Biomarkers, and Treatment-Response StratificationLianying Chang, Yue Pan, Xu He, et al.
Human Mutation|June 8, 2026
Functional Interpretation of Recurrent Genetic Variants in Hepatocellular Carcinoma: Molecular Consequences and Clinical RelevanceYuntao Ye, Zhulin Xu, Jiang Wang, et al.
Human Mutation|June 8, 2026
Novel African American Colorectal Cancer <i>MSH3</i> Variants Associate With Major Genomic InstabilityMudasir Rashid, Hassan Brim, Shaolei Teng, et al.
Human Mutation|May 8, 2026
A Homozygous Frameshift Mutation in <i>GREB1</i> Leads to Female InfertilityJinwei Yang, Linyan Yang, Bo Yan, et al.
Human Mutation|May 11, 2026
Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune-Metabolic Crosstalk in Triple-Negative Breast CancerJiahao Ge, Ting Chen, Yuanyuan Ma, et al.
Human Mutation|April 27, 2026
Transcriptomic Analysis Reveals the Role of <i>TRIM26</i> in Hepatocellular Carcinoma and Its Association With the Wnt/<i>β</i>-catenin Signaling PathwayConghua Song, Zijun Hou, Huifeng Wu, et al.
Human Mutation|April 23, 2026
Single-Cell Sequencing and Mendelian Randomization Reveal T Cell Nuclear Factor Genes in Hepatocellular Carcinoma ProgressionYunfei Chen, Xiting Yang, Lintao Zhong, et al.
Pageof 574

Showing results (1141-1150 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|January 1, 1996
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophyB Hess, S Kafert, U Heinisch, et al.
Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.
Human Mutation|August 3, 2000
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductaseP Goyette, R Rozen
Human Mutation|June 8, 2026
Toward Precision Acupuncture for Pain: Host Genetic Variability, Omics Biomarkers, and Treatment-Response StratificationLianying Chang, Yue Pan, Xu He, et al.
Human Mutation|June 8, 2026
Functional Interpretation of Recurrent Genetic Variants in Hepatocellular Carcinoma: Molecular Consequences and Clinical RelevanceYuntao Ye, Zhulin Xu, Jiang Wang, et al.
Human Mutation|June 8, 2026
Novel African American Colorectal Cancer <i>MSH3</i> Variants Associate With Major Genomic InstabilityMudasir Rashid, Hassan Brim, Shaolei Teng, et al.
Human Mutation|May 8, 2026
A Homozygous Frameshift Mutation in <i>GREB1</i> Leads to Female InfertilityJinwei Yang, Linyan Yang, Bo Yan, et al.
Human Mutation|May 11, 2026
Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune-Metabolic Crosstalk in Triple-Negative Breast CancerJiahao Ge, Ting Chen, Yuanyuan Ma, et al.
Human Mutation|April 27, 2026
Transcriptomic Analysis Reveals the Role of <i>TRIM26</i> in Hepatocellular Carcinoma and Its Association With the Wnt/<i>β</i>-catenin Signaling PathwayConghua Song, Zijun Hou, Huifeng Wu, et al.
Human Mutation|April 23, 2026
Single-Cell Sequencing and Mendelian Randomization Reveal T Cell Nuclear Factor Genes in Hepatocellular Carcinoma ProgressionYunfei Chen, Xiting Yang, Lintao Zhong, et al.
Pageof 574