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Human Mutation|July 6, 2020
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsDaffodil Canson, Dylan Glubb, Amanda B SpurdleHuman Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.Human Mutation|July 10, 2020
Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanomaIvan P Gorlov, Christopher I Amos, Spiridon Tsavachidis, et al.Human Mutation|August 26, 1998
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanismsT Schöneberg, A Schulz, H Biebermann, et al.Human Mutation|July 25, 2012
CNVD: text mining-based copy number variation in disease databaseFujun Qiu, Yan Xu, Kening Li, et al.Human Mutation|August 14, 2012
Investigation of the relationship between prostate cancer and MSMB and NCOA4 genetic variants and protein expressionLiesel M FitzGerald, Xiaotun Zhang, Suzanne Kolb, et al.Human Mutation|July 4, 2014
Destruction of DDIT3/CHOP protein by wild-type SPOP but not prostate cancer-associated mutantsPingzhao Zhang, Kun Gao, Yan Tang, et al.Human Mutation|June 12, 2014
Majority vote and other problems when using computational toolsMauno VihinenHuman Mutation|September 1, 2012
General olfactory sensitivity database (GOSdb): candidate genes and their genomic variationsIfat Keydar, Edna Ben-Asher, Ester Feldmesser, et al.Human Mutation|August 29, 2012
Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populationsShengping Hou, Xiang Xiao, Yan Zhou, et al.Pageof 575