Showing results (1941-1950 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|May 22, 2009
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclaseVeronique B D Kitiratschky, Petra Behnen, Ulrich Kellner, et al.Human Mutation|May 23, 2009
APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer diseaseKarolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, et al.Human Mutation|May 7, 2009
High-resolution melting analysis (HRMA): more than just sequence variant screeningRolf H A M Vossen, Emmelien Aten, Anja Roos, et al.Human Mutation|May 12, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repairNadia Chuzhanova, Jian-Min Chen, Albino Bacolla, et al.Human Mutation|May 12, 2009
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara Vantaggiato, Francesca Redaelli, Sestina Falcone, et al.Human Mutation|March 6, 2009
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive proteinRaffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, et al.Human Mutation|March 13, 2009
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patientsGerlind Franke, Birke Bausch, Michael M Hoffmann, et al.Human Mutation|May 30, 2009
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variationAnthony J Brookes, Heikki Lehvaslaiho, Juha Muilu, et al.Human Mutation|December 24, 2008
MedRefSNP: a database of medically investigated SNPsHwanseok Rhee, Jin-Sung LeeHuman Mutation|January 2, 2009
IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumorsFonnet E Bleeker, Simona Lamba, Sieger Leenstra, et al.Pageof 574