Showing results (2511-2520 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|May 19, 2025
Single-Cell and Spatial Transcriptomics Explore Purine Metabolism-Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian CancerYinglei Liu, Rui Geng, Songyun Zhao, et al.
Human Mutation|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.
Human Mutation|September 22, 2025
Corrigendum to "Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework"
Human Mutation|August 18, 2025
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone FormationLu Yang, Chunping Bo, Meiqi Chen, et al.
Human Mutation|September 8, 2025
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial CleftSiying Zhu, Hongxu Tao, Robert A Cornell, et al.
Human Mutation|October 22, 2025
Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia PedigreeWenjing Zhou, Fulin Liu, Shaojun Li, et al.
Human Mutation|October 16, 2025
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp MutationYu Ding, Xuejiao Yu, Jian Xu, et al.
Human Mutation|September 13, 2013
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 geneMark Drost, Hester Koppejan, Niels de Wind
Human Mutation|September 13, 2013
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility allelesAna Osorio, Massimo Bogliolo, Victoria Fernández, et al.
Human Mutation|September 17, 2013
Sensitive detection of KRAS mutations using enhanced-ice-COLD-PCR mutation enrichment and direct sequence identificationAlexandre How Kit, Nicolas Mazaleyrat, Antoine Daunay, et al.
Pageof 583