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Human Mutation|May 13, 2008
Dry-reagent disposable biosensor for visual genotyping of single nucleotide polymorphisms by oligonucleotide ligation reaction: application to pharmacogenetic analysisDimitra K Toubanaki, Theodore K Christopoulos, Penelope C Ioannou, et al.Human Mutation|May 14, 2008
Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genesLaura Sedman, Badri Padhukasahasram, Piret Kelgo, et al.Human Mutation|May 6, 2008
Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene clusterKarin Buiting, Deniz Kanber, José I Martín-Subero, et al.Human Mutation|April 23, 2008
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndromeGuntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, et al.Human Mutation|April 19, 2008
Genetic polymorphisms for the study of multifactorial strokeA Bersano, E Ballabio, N Bresolin, et al.Human Mutation|April 15, 2008
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)Delphine Trochet, Loïc de Pontual, Maria Helena Estêvao, et al.Human Mutation|April 15, 2008
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)Ann Meyer, Kai Kossow, Andreas Gal, et al.Human Mutation|April 15, 2008
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen, Robert Lyle, Analia Munoz, et al.Human Mutation|February 22, 2002
Differential occurrence of mutations causative of eye diseases in the Chinese populationChi Pui Pang, Dennis Shun Chiu LamHuman Mutation|February 22, 2002
G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutationsColin J Kwok, Andrew C R Martin, Shannon W N Au, et al.Pageof 583