Human mutation - JoVE Visualize

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Human Mutation|April 29, 1998

An androgen receptor gene mutation (A645D) in a boy with a normal phenotypeA Nordenskjöld, S Söderhäll

Human Mutation|January 1, 1997

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiencyA Barrientos, J Casademont, D Genís, et al.

Human Mutation|May 28, 2014

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intoleranceValeria Carossa, Anna Ghelli, Concetta Valentina Tropeano, et al.

Human Mutation|May 27, 2015

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental RetardationLaura Addis, Joo Wook Ahn, Richard Dobson, et al.

Human Mutation|February 9, 2026

Causal Relationships Between Plasma Metabolites, Inflammatory Factors, and Oral Cancer Risk: A Comprehensive Mendelian Randomization Study With Mediation AnalysisShaonan Hu, Chufeng Liu, Minghua Ren

Human Mutation|January 23, 2026

Proprotein Convertase Subtilisin/Kexin Type 9 Induces Platelet-Derived Transforming Growth Factor-β to Promote Myocardial Fibrosis After Myocardial InfarctionQianyun Wang, Wenxiang Huang, Dianmin Xia, et al.

Human Mutation|January 26, 2026

Exploring the Dynamic Changes of Intercellular Connections in Cervical Cancer: Insights From Transcriptomic Data Combined With Single-Cell SequencingRan Ji, Rui Geng, Zhaoyue Zhang, et al.

Human Mutation|January 26, 2026

Revealing the Action Mechanism of Exogenous Hydrogen Sulfide Intervention in Colorectal Cancer Pathogenesis Based on Multiomics Analysis and Experimental ValidationFacai Cui, Chen Yu, Weifeng Zhao, et al.

Human Mutation|January 14, 2026

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read SequencingXiaoqiang Zhou, Yue Chen, Shufen Chen, et al.

Human Mutation|January 12, 2026

Integrated Multiomics Analysis Reveals a Migrasome-Related Signature for Prognosis and Immunotherapy Response in Lung AdenocarcinomaJiayu Zhou, Tianye Song, Nengzheng Wang, et al.

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Showing results (2711-2720 of 5,748) with videos related to

Sort By:

Pageof 575

Human Mutation|April 29, 1998

An androgen receptor gene mutation (A645D) in a boy with a normal phenotypeA Nordenskjöld, S Söderhäll

Human Mutation|January 1, 1997

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiencyA Barrientos, J Casademont, D Genís, et al.

Human Mutation|May 28, 2014

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intoleranceValeria Carossa, Anna Ghelli, Concetta Valentina Tropeano, et al.

Human Mutation|May 27, 2015

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental RetardationLaura Addis, Joo Wook Ahn, Richard Dobson, et al.

Human Mutation|February 9, 2026

Causal Relationships Between Plasma Metabolites, Inflammatory Factors, and Oral Cancer Risk: A Comprehensive Mendelian Randomization Study With Mediation AnalysisShaonan Hu, Chufeng Liu, Minghua Ren

Human Mutation|January 23, 2026

Proprotein Convertase Subtilisin/Kexin Type 9 Induces Platelet-Derived Transforming Growth Factor-β to Promote Myocardial Fibrosis After Myocardial InfarctionQianyun Wang, Wenxiang Huang, Dianmin Xia, et al.

Human Mutation|January 26, 2026

Exploring the Dynamic Changes of Intercellular Connections in Cervical Cancer: Insights From Transcriptomic Data Combined With Single-Cell SequencingRan Ji, Rui Geng, Zhaoyue Zhang, et al.

Human Mutation|January 26, 2026

Revealing the Action Mechanism of Exogenous Hydrogen Sulfide Intervention in Colorectal Cancer Pathogenesis Based on Multiomics Analysis and Experimental ValidationFacai Cui, Chen Yu, Weifeng Zhao, et al.

Human Mutation|January 14, 2026

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read SequencingXiaoqiang Zhou, Yue Chen, Shufen Chen, et al.

Human Mutation|January 12, 2026

Integrated Multiomics Analysis Reveals a Migrasome-Related Signature for Prognosis and Immunotherapy Response in Lung AdenocarcinomaJiayu Zhou, Tianye Song, Nengzheng Wang, et al.

Pageof 575