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Human Mutation|June 14, 2008
Successful amplification of degraded DNA for use with high-throughput SNP genotyping platformsSimon Mead, Mark Poulter, John Beck, et al.Human Mutation|October 16, 2009
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutantsNina Sneitz, Conny T Bakker, Robert J de Knegt, et al.Human Mutation|January 22, 2008
Myoclonus-dystonia: significance of large SGCE deletionsA Grünewald, A Djarmati, K Lohmann-Hedrich, et al.Human Mutation|January 1, 1997
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysisR B van der Luijt, P M Khan, H F Vasen, et al.Human Mutation|January 1, 1997
Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin geneD Jack, J Bidwell, M Turner, et al.Human Mutation|January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutationsB Cormand, L Vilageliu, J M Burguera, et al.Human Mutation|January 1, 1995
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase geneA Isoniemi, M Hietala, P Aula, et al.Human Mutation|January 1, 1995
Somatic mutations in VNTR-locus D1S7 in human colorectal carcinomas are associated with microsatellite instabilityP Hoff-Olsen, G I Meling, B OlaisenHuman Mutation|November 26, 1998
Mutation analysis of Wilson disease in Taiwan and description of six new mutationsC H Tsai, F J Tsai, J Y Wu, et al.Human Mutation|November 26, 1998
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosisR L Beauchamp, A Banwell, P McNamara, et al.Pageof 578