Human mutation - JoVE Visualize

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Human Mutation|June 2, 2025

Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric AnalysisJun Pu, Yamin Zhao, Yu Wu, et al.

Human Mutation|October 8, 2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy CaseRui Dong, Kai Ma, Yuexia Bai, et al.

Human Mutation|October 17, 2026

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye DisordersXiaozhen Liu, Ruixuan Jia, Yaning Zhao, et al.

Human Mutation|August 25, 2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung AdenocarcinomaZhi Liu, Gang Li, Ling Lin

Human Mutation|August 26, 2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary DyskinesiaMing Li, Wen Tao, Qingshan Ji, et al.

Human Mutation|September 4, 2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl SyndromeYi Kong, Yousheng Wang, Xingwang Wang, et al.

Human Mutation|September 8, 2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung CancerJinyao Wang, Shuang Li, Jingjing Zhou, et al.

Human Mutation|September 3, 2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence FrameworkChongwen Fang, Min Wu, Jing Lv, et al.

Human Mutation|September 18, 2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and DevelopmentHui Xiao, Changning Xie, Pan Peng, et al.

Human Mutation|September 19, 2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 KindredsSajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, et al.

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Showing results (1461-1470 of 5,818) with videos related to

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Human Mutation|June 2, 2025

Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric AnalysisJun Pu, Yamin Zhao, Yu Wu, et al.

Human Mutation|October 8, 2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy CaseRui Dong, Kai Ma, Yuexia Bai, et al.

Human Mutation|October 17, 2026

Next-Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non-retinal Developmental Eye DisordersXiaozhen Liu, Ruixuan Jia, Yaning Zhao, et al.

Human Mutation|August 25, 2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung AdenocarcinomaZhi Liu, Gang Li, Ling Lin

Human Mutation|August 26, 2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary DyskinesiaMing Li, Wen Tao, Qingshan Ji, et al.

Human Mutation|September 4, 2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl SyndromeYi Kong, Yousheng Wang, Xingwang Wang, et al.

Human Mutation|September 8, 2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung CancerJinyao Wang, Shuang Li, Jingjing Zhou, et al.

Human Mutation|September 3, 2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence FrameworkChongwen Fang, Min Wu, Jing Lv, et al.

Human Mutation|September 18, 2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and DevelopmentHui Xiao, Changning Xie, Pan Peng, et al.

Human Mutation|September 19, 2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 KindredsSajjad Biglari, Halimeh Rezaei, Elnaz Asadollahzadeh, et al.

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