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Human mutation

Showing results (1371-1380 of 5,734) with videos related to

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Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Human Mutation|January 1, 1997
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patientK Takayama, D M Danks, E P Salazar, et al.
Human Mutation|August 26, 1998
Identification of Alu-mediated deletions in the Fanconi anemia gene FAAO Levran, N A Doggett, A D Auerbach
Human Mutation|June 15, 2026
SRSF1/Mcl-1 Axis Drives Apoptosis Evasion and Shapes the Immune Microenvironment to Promote Gastric Cancer ProgressionXingguang Liu, Deming Liu, Guangming Zhang, et al.
Human Mutation|June 22, 2026
Cross-Strand Chimeric RNA Signature Predicts Prognosis and Identifies Tumor Immune Microenvironment Associations in Gastric CancerShuqiang Cheng, Miaomiao Cui, Xuehui Li, et al.
Human Mutation|June 29, 2026
Lactylation-Related Genes in Ulcerative Colitis: A Multiomics Mendelian Randomization Study for Therapeutic Target DiscoveryNa An, Ruiyun Wang, Huiping Jiao, et al.
Human Mutation|July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Human Mutation|July 9, 2026
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and PhenotypesHeather Richbourg, Vanessa Rangel Miller, Omid Khazaie Japalaghi, et al.
Human Mutation|July 10, 2026
From Exposure to Biomarker: Cumulative Tobacco Burden and Integrated Multiomics Signatures of High Tumor Mutational Burden in Lung Adenocarcinoma-A Secondary Analysis of the Cancer Genome AtlasJin Wei, Qin Yangsong, Ruan Hongjia, et al.
Human Mutation|July 10, 2026
Genetic Links Between Cancer and Coronary Atherosclerosis: A Mendelian Randomization AnalysisYanan Fan, Miaomiao Liu, Lifei Zhang, et al.
Pageof 574

Showing results (1371-1380 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Human Mutation|January 1, 1997
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patientK Takayama, D M Danks, E P Salazar, et al.
Human Mutation|August 26, 1998
Identification of Alu-mediated deletions in the Fanconi anemia gene FAAO Levran, N A Doggett, A D Auerbach
Human Mutation|June 15, 2026
SRSF1/Mcl-1 Axis Drives Apoptosis Evasion and Shapes the Immune Microenvironment to Promote Gastric Cancer ProgressionXingguang Liu, Deming Liu, Guangming Zhang, et al.
Human Mutation|June 22, 2026
Cross-Strand Chimeric RNA Signature Predicts Prognosis and Identifies Tumor Immune Microenvironment Associations in Gastric CancerShuqiang Cheng, Miaomiao Cui, Xuehui Li, et al.
Human Mutation|June 29, 2026
Lactylation-Related Genes in Ulcerative Colitis: A Multiomics Mendelian Randomization Study for Therapeutic Target DiscoveryNa An, Ruiyun Wang, Huiping Jiao, et al.
Human Mutation|July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Human Mutation|July 9, 2026
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and PhenotypesHeather Richbourg, Vanessa Rangel Miller, Omid Khazaie Japalaghi, et al.
Human Mutation|July 10, 2026
From Exposure to Biomarker: Cumulative Tobacco Burden and Integrated Multiomics Signatures of High Tumor Mutational Burden in Lung Adenocarcinoma-A Secondary Analysis of the Cancer Genome AtlasJin Wei, Qin Yangsong, Ruan Hongjia, et al.
Human Mutation|July 10, 2026
Genetic Links Between Cancer and Coronary Atherosclerosis: A Mendelian Randomization AnalysisYanan Fan, Miaomiao Liu, Lifei Zhang, et al.
Pageof 574