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Human Mutation|March 10, 2009
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genesShweta Singh, Subramaniam GaneshHuman Mutation|March 10, 2009
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsSven Arnold, Daniel D Buchanan, Melissa Barker, et al.Human Mutation|March 13, 2009
Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragmentsElizabeth A Tindall, Desiree C Petersen, Paula Woodbridge, et al.Human Mutation|March 13, 2009
Detection of mosaic RB1 mutations in families with retinoblastomaDiane Rushlow, Beata Piovesan, Katherine Zhang, et al.Human Mutation|March 5, 2009
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patientsCaroline Kannengiesser, Sharon Brookes, Anna Gutierrez del Arroyo, et al.Human Mutation|May 30, 2009
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT geneEmma L Williams, Cecile Acquaviva, Antonio Amoroso, et al.Human Mutation|May 30, 2009
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) geneMatthew Feldhammer, Stéphanie Durand, Lenka Mrázová, et al.Human Mutation|May 22, 2009
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome familiesGeorge Chong, Jonathan Jarry, Victoria Marcus, et al.Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.Human Mutation|February 26, 2009
Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10Xueying Liang, Michael Slifer, Eden R Martin, et al.Pageof 583