Human mutation - JoVE Visualize

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Human Mutation|July 2, 2026

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability CohortEbrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam, et al.

Human Mutation|June 29, 2026

Hypoxia-Associated Molecular Subtypes Reveal Immune Checkpoint, Ferroptosis, and m6A Regulatory Heterogeneity in Pediatric VasculitisBin Liu

Human Mutation|June 29, 2026

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1Chong Mao, Guobin Chen, Jiayu Tang, et al.

Human Mutation|June 19, 2026

Causal Effects and Single-Cell Microenvironmental Implications of Germline Variant-Regulated Lactylation-Related Pro-Oncogenic Genes in Colorectal CancerBiao Sheng, Jianwei Wang

Human Mutation|June 19, 2026

Integrative Multiomics Analysis Identifies DKK3 as a Germline Susceptibility-Related Regulator of Risperidone Response and Metabolic Risk in SchizophreniaXiaoyun Zhang, Jingjing Li, Yao Sun, et al.

Human Mutation|June 19, 2026

Translating Osteoarthritis Genetic Risk Into Biomarkers: Opportunities, Pitfalls, and Implementation ConsiderationsTao Meng, Lina Ma, Xiaoqing Zhang, et al.

Human Mutation|July 10, 2026

Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal CancerXin Deng, Shaohong Huang

Human Mutation|February 6, 1998

The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.

Human Mutation|July 26, 2026

Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell CarcinomaYingkun Xu, Guandu Li, Xinxiu Ren, et al.

Human Mutation|January 9, 2007

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotypeWayne A Cabral, Elena Makareeva, Anne D Letocha, et al.

Pageof 578

Showing results (1441-1450 of 5,776) with videos related to

Sort By:

Pageof 578

Human Mutation|July 2, 2026

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability CohortEbrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam, et al.

Human Mutation|June 29, 2026

Hypoxia-Associated Molecular Subtypes Reveal Immune Checkpoint, Ferroptosis, and m6A Regulatory Heterogeneity in Pediatric VasculitisBin Liu

Human Mutation|June 29, 2026

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1Chong Mao, Guobin Chen, Jiayu Tang, et al.

Human Mutation|June 19, 2026

Causal Effects and Single-Cell Microenvironmental Implications of Germline Variant-Regulated Lactylation-Related Pro-Oncogenic Genes in Colorectal CancerBiao Sheng, Jianwei Wang

Human Mutation|June 19, 2026

Integrative Multiomics Analysis Identifies DKK3 as a Germline Susceptibility-Related Regulator of Risperidone Response and Metabolic Risk in SchizophreniaXiaoyun Zhang, Jingjing Li, Yao Sun, et al.

Human Mutation|June 19, 2026

Translating Osteoarthritis Genetic Risk Into Biomarkers: Opportunities, Pitfalls, and Implementation ConsiderationsTao Meng, Lina Ma, Xiaoqing Zhang, et al.

Human Mutation|July 10, 2026

Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal CancerXin Deng, Shaohong Huang

Human Mutation|February 6, 1998

The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.

Human Mutation|July 26, 2026

Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell CarcinomaYingkun Xu, Guandu Li, Xinxiu Ren, et al.

Human Mutation|January 9, 2007

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotypeWayne A Cabral, Elena Makareeva, Anne D Letocha, et al.

Pageof 578