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Human Mutation|September 3, 2026
Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence FrameworkChongwen Fang, Min Wu, Jing Lv, et al.Human Mutation|September 4, 2026
Phenotypes of Hereditary Diseases Associated With Rauch-Steindl SyndromeYi Kong, Yousheng Wang, Xingwang Wang, et al.Human Mutation|September 8, 2026
Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung CancerJinyao Wang, Shuang Li, Jingjing Zhou, et al.Human Mutation|September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.Human Mutation|October 17, 2022
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testingHannie C W Douben, Mark Nellist, Leontine van Unen, et al.Human Mutation|November 6, 2022
KBTBD13 is a novel cardiomyopathy geneJosine M de Winter, Karlijn Bouman, Joshua Strom, et al.Human Mutation|November 26, 2014
Single nucleotide differences (SNDs) continue to contaminate the dbSNP database with consequences for human genomics and healthJonathan W Arthur, Florence S G Cheung, Juergen K V ReichardtHuman Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.Human Mutation|November 1, 2015
TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital SyndromeNatalia A Shylo, Kasey J Christopher, Alejandro Iglesias, et al.Human Mutation|June 21, 2016
DCDC2 Mutations Cause Neonatal Sclerosing CholangitisMuriel Girard, Albane A Bizet, Alain Lachaux, et al.Pageof 578