Human mutation - JoVE Visualize

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Human Mutation|May 25, 2026

From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI IntegrationYiqing Jiang, Na Wang, Qin Zeng, et al.

Human Mutation|May 18, 2026

Experimental Validation and Bioinformatics Analysis Elucidate the Role of MTDH-Mediated PTEN Ubiquitination and Degradation in Podocyte Injury in Diabetic Kidney DiseaseZerong Zheng, Danping Tao, Wenting Wu, et al.

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 MSH3 Variants Associate With Major Genomic InstabilityMudasir Rashid, Hassan Brim, Shaolei Teng, et al.

Human Mutation|May 8, 2026

A Homozygous Frameshift Mutation in GREB1 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.

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Showing results (2591-2600 of 5,747) with videos related to

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Pageof 575

Human Mutation|May 25, 2026

From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI IntegrationYiqing Jiang, Na Wang, Qin Zeng, et al.

Human Mutation|May 18, 2026

Experimental Validation and Bioinformatics Analysis Elucidate the Role of MTDH-Mediated PTEN Ubiquitination and Degradation in Podocyte Injury in Diabetic Kidney DiseaseZerong Zheng, Danping Tao, Wenting Wu, et al.

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 MSH3 Variants Associate With Major Genomic InstabilityMudasir Rashid, Hassan Brim, Shaolei Teng, et al.

Human Mutation|May 8, 2026

A Homozygous Frameshift Mutation in GREB1 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.

Pageof 575