Human mutation - JoVE Visualize

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Human Mutation|July 16, 2026

Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic ModelWenjuan Gao, Dongwei Cong, Xiuqi Chen, et al.

Human Mutation|January 11, 2000

First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patientH Morisaki, I Higuchi, M Abe, et al.

Human Mutation|August 23, 2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental DisordersJamie-Lee M Thompson, Yunkai Gao, Eri Iwasawa, et al.

Human Mutation|August 14, 2026

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART StrategiesYanqin Xiao, Yutong He, Lanlan Meng, et al.

Human Mutation|August 22, 2026

Bridging the Gap: High-Resolution RHCE Genotyping by Third-Generation Sequencing Enhances Serological Interpretation of Weak VariantsFan Wu, Li-Yan Sun, Shuang Liang

Human Mutation|August 22, 2026

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male InfertilityBeibei Zhang, Ao Ma, Hongyi Wang, et al.

Human Mutation|August 6, 2026

Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCCKarina L Bursch, Salomão D Jorge, Audrey E Catlin, et al.

Human Mutation|August 26, 2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung AdenocarcinomaBin Jia, Ting Gong, Chen Chen, 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.

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Showing results (1451-1460 of 5,776) with videos related to

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Pageof 578

Human Mutation|July 16, 2026

Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic ModelWenjuan Gao, Dongwei Cong, Xiuqi Chen, et al.

Human Mutation|January 11, 2000

First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patientH Morisaki, I Higuchi, M Abe, et al.

Human Mutation|August 23, 2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental DisordersJamie-Lee M Thompson, Yunkai Gao, Eri Iwasawa, et al.

Human Mutation|August 14, 2026

Mutation Severity of FBXO43 Determines Spermatogenic Outcome and Informs Precision ART StrategiesYanqin Xiao, Yutong He, Lanlan Meng, et al.

Human Mutation|August 22, 2026

Bridging the Gap: High-Resolution RHCE Genotyping by Third-Generation Sequencing Enhances Serological Interpretation of Weak VariantsFan Wu, Li-Yan Sun, Shuang Liang

Human Mutation|August 22, 2026

Pathogenic Variants in PET Complex Encoding Genes TDRD12 and EXD1 Impair piRNA Biogenesis and Cause Male InfertilityBeibei Zhang, Ao Ma, Hongyi Wang, et al.

Human Mutation|August 6, 2026

Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCCKarina L Bursch, Salomão D Jorge, Audrey E Catlin, et al.

Human Mutation|August 26, 2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung AdenocarcinomaBin Jia, Ting Gong, Chen Chen, 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.

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