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Human mutation

Showing results (1361-1370 of 5,734) with videos related to

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Human Mutation|April 14, 2025
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and PhenotypesMaria Sáez González, Kes Kloosterhuis, Laura van de Pol, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
Human Mutation|April 14, 2025
<i>Pi∗S</i> and <i>Pi∗Z</i> Alleles of <i>SERPINA1</i> Gene Are Associated With Specific Variants of a BRD4-Independent EnhancerAinhoa Escuela-Escobar, Esther Herrera-Luis, Elena Martín-González, et al.
Human Mutation|April 14, 2025
A Novel Missense Variant of <i>BMPR1A</i> in Juvenile Polyposis Syndrome: Assessment of Structural and Functional AlternationsMengyuan Yang, Ziyan Tong, Zhijun Yuan, et al.
Human Mutation|April 14, 2025
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich FusionGuodong Gao, Yinglun Tian, Kan-Lin Hung, et al.
Human Mutation|April 14, 2025
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based CasesMing Chen, Allan Motyer, Bruce V Taylor, et al.
Human Mutation|April 14, 2025
Application of Targeted Y-Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup QZehra Köksal, Claus Børsting, Graciela Bailliet, et al.
Human Mutation|April 14, 2025
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis GenesMichael R Fiorini, Allison A Dilliott, Sali M K Farhan
Human Mutation|December 22, 2025
Integrated Multiomics Unravels Hedgehog (HH) Signaling Characteristics in Pancreatic Cancer (PC) and DCBLD2 Regulates HH Signaling to Drive PC ProgressionBiao Zhang, Bingqian Huang, Xinya Zhao, et al.
Human Mutation|November 28, 2025
The Role of Key Glycolytic Enzymes in the Diagnosis, Treatment, and Immune Microenvironment of Colorectal CancerHaijuan Gu, Chunhua Liu, Erdong Cai, et al.
Pageof 574

Showing results (1361-1370 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|April 14, 2025
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and PhenotypesMaria Sáez González, Kes Kloosterhuis, Laura van de Pol, et al.
Human Mutation|April 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique <i>ABCA4</i> Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkStéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman, et al.
Human Mutation|April 14, 2025
<i>Pi∗S</i> and <i>Pi∗Z</i> Alleles of <i>SERPINA1</i> Gene Are Associated With Specific Variants of a BRD4-Independent EnhancerAinhoa Escuela-Escobar, Esther Herrera-Luis, Elena Martín-González, et al.
Human Mutation|April 14, 2025
A Novel Missense Variant of <i>BMPR1A</i> in Juvenile Polyposis Syndrome: Assessment of Structural and Functional AlternationsMengyuan Yang, Ziyan Tong, Zhijun Yuan, et al.
Human Mutation|April 14, 2025
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich FusionGuodong Gao, Yinglun Tian, Kan-Lin Hung, et al.
Human Mutation|April 14, 2025
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based CasesMing Chen, Allan Motyer, Bruce V Taylor, et al.
Human Mutation|April 14, 2025
Application of Targeted Y-Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup QZehra Köksal, Claus Børsting, Graciela Bailliet, et al.
Human Mutation|April 14, 2025
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis GenesMichael R Fiorini, Allison A Dilliott, Sali M K Farhan
Human Mutation|December 22, 2025
Integrated Multiomics Unravels Hedgehog (HH) Signaling Characteristics in Pancreatic Cancer (PC) and DCBLD2 Regulates HH Signaling to Drive PC ProgressionBiao Zhang, Bingqian Huang, Xinya Zhao, et al.
Human Mutation|November 28, 2025
The Role of Key Glycolytic Enzymes in the Diagnosis, Treatment, and Immune Microenvironment of Colorectal CancerHaijuan Gu, Chunhua Liu, Erdong Cai, et al.
Pageof 574