Showing results (3101-3110 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|February 19, 2022
The heterozygous mutations of SLC26A8 are not the main actors for male infertilityMohan Liu, Jinhui Li, Yaqian Li, et al.Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.Human Mutation|October 25, 2021
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicineAshlee Long, Hui Liu, Jian Liu, et al.Human Mutation|June 28, 2019
Predicting changes in protein stability caused by mutation using sequence-and structure-based methods in a CAGI5 blind challengeAlexey Strokach, Carles Corbi-Verge, Philip M KimHuman Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.Human Mutation|February 10, 2022
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithmToyofumi Fujiwara, Jae-Moon Shin, Atsuko YamaguchiHuman Mutation|May 31, 2019
Predicting pathogenicity of missense variants with weakly supervised regressionYue Cao, Yuanfei Sun, Mostafa Karimi, et al.Human Mutation|May 31, 2019
Identifying mutation-driven changes in gene functionality that lead to venous thromboembolismYanran Wang, Yana BrombergHuman Mutation|June 11, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiencyGuillermo Del Angel, Andrew T Hutchinson, Nina K Jain, et al.Pageof 583