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Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.Human Mutation|September 3, 2010
Molecular spectrum of autosomal dominant hypercholesterolemia in FranceMarie Marduel, Alain Carrié, Agnes Sassolas, et al.Human Mutation|September 3, 2010
MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targetsMaxim Barenboim, Brad J Zoltick, Yongjian Guo, et al.Human Mutation|October 21, 2010
HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroupsAnita Kloss-Brandstätter, Dominic Pacher, Sebastian Schönherr, et al.Human Mutation|March 12, 2011
Update on SLC26A3 mutations in congenital chloride diarrheaSatu Wedenoja, Elina Pekansaari, Pia Höglund, et al.Human Mutation|February 5, 2011
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleNina D Ullrich, Dirk Fischer, Cornelia Kornblum, et al.Human Mutation|May 5, 2011
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiencySandra Brasil, Hiu Man Viecelli, David Meili, et al.Human Mutation|May 12, 2011
L1 hybridization enrichment: a method for directly accessing de novo L1 insertions in the human germlinePeter Freeman, Catriona Macfarlane, Pamela Collier, et al.Human Mutation|May 12, 2011
Clinical and biochemical heterogeneity associated with fumarase deficiencyChris Ottolenghi, Laurence Hubert, Yannick Allanore, et al.Pageof 583