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Human Mutation|October 27, 2007
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)M Upadhyaya, Lan Kluwe, G Spurlock, et al.
Human Mutation|October 17, 2007
AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans. Mutation in brief no. 981. OnlineZoë M Prichard, Andrew J Mackinnon, Anthony F Jorm, et al.
Human Mutation|April 27, 2007
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiencySacha Ferdinandusse, Simone Denis, Eveline M Hogenhout, et al.
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Human Mutation|November 13, 2007
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decayGisela Nogales-Gadea, Juan Carlos Rubio, Israel Fernandez-Cadenas, et al.
Human Mutation|August 8, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French populationMickaël Guedj, Agnès Bourillon, Christophe Combadières, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Human Mutation|August 6, 2008
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significanceMaria Adelaide Caligo, Fabrizia Bonatti, Lucia Guidugli, et al.
Human Mutation|October 15, 2008
Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseBalaji S Srinivasan, Jaleh Doostzadeh, Farnaz Absalan, et al.
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