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Human Mutation|November 4, 2004
High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype taggingRichard J N Allcock, Lydia Windsor, Ivo G Gut, et al.Human Mutation|November 4, 2004
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1Cynthia Laflamme, Christine Filion, Yves LabelleHuman Mutation|November 9, 2004
Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer familiesCarolin Hartmann, Anika L John, Rüdiger Klaes, et al.Human Mutation|April 16, 2005
Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templatesBoris Greber, Helena Tandara, Hans Lehrach, et al.Human Mutation|April 16, 2005
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiencyEsther M Maier, Bernhard Liebl, Wulf Röschinger, et al.Human Mutation|April 16, 2005
TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclatureAlessandra Splendore, Roberto D Fanganiello, Cibele Masotti, et al.Human Mutation|March 19, 2005
Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinomaTracy Lovatt, Julie Alldersea, John T Lear, et al.Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.Human Mutation|September 15, 2004
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidaseJani Saarela, Carina von Schantz, Leena Peltonen, et al.Human Mutation|September 15, 2004
BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancerJae Hong Seo, Dae-Yeon Cho, Se-Hyun Ahn, et al.Pageof 582