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American Journal of Human Genetics|November 21, 2000
The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish populationS Silverstein, I Lerer, K Buiting, et al.
American Journal of Human Genetics|October 31, 2000
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphismsI M Buyse, P Fang, K T Hoon, et al.
American Journal of Human Genetics|October 18, 2000
A genome scan in families from Australia and New Zealand confirms the presence of a maternal susceptibility locus for pre-eclampsia, on chromosome 2E K Moses, J A Lade, G Guo, et al.
American Journal of Human Genetics|November 9, 2000
Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24N Vionnet, El H Hani, S Dupont, et al.
American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.
American Journal of Human Genetics|February 17, 2001
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosisK Göransdotter Ericson, B Fadeel, S Nilsson-Ardnor, et al.
American Journal of Human Genetics|February 17, 2001
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studiesC M Eng, M Banikazemi, R E Gordon, et al.
American Journal of Human Genetics|February 17, 2001
mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestryA Helgason, E Hickey, S Goodacre, et al.
American Journal of Human Genetics|February 17, 2001
Familial dysautonomia is caused by mutations of the IKAP geneS L Anderson, R Coli, I W Daly, et al.
American Journal of Human Genetics|March 20, 2001
Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancerJ Xu, S L Zheng, J D Carpten, et al.
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