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Human Mutation|April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumbTobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.Human Mutation|April 21, 2012
NGS catalog: A database of next generation sequencing studies in humansJunfeng Xia, Qingguo Wang, Peilin Jia, et al.Human Mutation|May 1, 2012
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9An-Ping Chen, Min-Hwang Chang, Michael F RomeroHuman Mutation|December 23, 2011
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cellsNathalie Boone, Aurélie Bergon, Béatrice Loriod, et al.Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.Human Mutation|December 23, 2011
A frequent somatic mutation in CD274 3'-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 bindingWeipeng Wang, Jing Sun, Fang Li, et al.Human Mutation|May 31, 2012
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1)Chou Hung Sim, Kipros Gabriel, Ryan D Mills, et al.Human Mutation|May 31, 2012
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse modelChristineh N Sarkissian, Ming Ying, Tanja Scherer, et al.Human Mutation|June 14, 2012
ABCMdb: a database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general applicationGergely Gyimesi, Dávid Borsodi, Hajnalka Sarankó, et al.Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.Pageof 574