Showing results (1381-1390 of 5,776) with videos related to
Sort By:
Pageof 578
Human Mutation|October 4, 2018
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and diseasePeter J Houweling, Ioannis D Papadimitriou, Jane T Seto, et al.Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.Human Mutation|May 19, 2018
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findingsMeritxell Carrió, Bernat Gel, Ernest Terribas, et al.Human Mutation|May 19, 2018
Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variantsCristina Fortuno, Paul A James, Erin L Young, et al.Human Mutation|April 13, 2019
A snapshot of some pLI score pitfallsAlban Ziegler, Estelle Colin, David Goudenège, et al.Human Mutation|June 12, 2019
Assessment of methods for predicting the effects of PTEN and TPMT protein variantsVikas Pejaver, Giulia Babbi, Rita Casadio, et al.Human Mutation|October 19, 2012
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retinaMara Doimo, Maria Andrea Desbats, Maria Cristina Baldoin, et al.Human Mutation|October 19, 2012
KDM6A point mutations cause Kabuki syndromeNoriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, et al.Human Mutation|October 19, 2012
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutationByung Yoon Choi, Do-Hwan Kim, Taesu Chung, et al.Human Mutation|August 10, 2022
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrestXiaomei Tong, Jiamin Jin, Zhanhong Hu, et al.Pageof 578