Showing results (2831-2840 of 5,748) with videos related to
Sort By:
Pageof 575
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.Human Mutation|July 14, 2026
Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics AnalysisIoanna Poulida, Kariofyllis Karamperis, Ioanna Konstantina Routsi, et al.Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.Human Mutation|July 9, 2009
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylationPaul J M Savelkoul, Fabrizio De Mattia, Yuedan Li, et al.Human Mutation|February 5, 1998
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.Human Mutation|July 19, 2026
Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site VariantStefania Martino, Mara Doimo, Matteo Iacoviello, et al.Human Mutation|July 19, 2026
Rare Variants in Purinergic P2X Receptor Genes (P2RX4, P2RX5, P2RX7) in Individuals With Autism Spectrum Disorder: An Exploratory StudyGül Ünsel-Bolat, Hilmi BolatPageof 575