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Human Mutation|April 11, 2001
Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identificationF Ye, M S Li, J D Taylor, et al.Human Mutation|April 11, 2001
Identification of novel WFS1 mutations in Italian children with Wolfram syndromeA Tessa, I Carbone, M C Matteoli, et al.Human Mutation|April 11, 2001
Human GABA(B) receptor 1 gene: eight novel sequence variantsF M Hisama, J R Gruen, J Choi, et al.Human Mutation|April 11, 2001
Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12M Linnebank, A Homberger, J P Kraus, et al.Human Mutation|April 24, 2001
Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness familiesZ H Shah, M Toompuu, T Hakkinen, et al.Human Mutation|January 11, 2000
Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) allelesA Elmgren, C Börjeson, R Mollicone, et al.Human Mutation|January 11, 2000
Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancerR Shiri-Sverdlov, P Oefner, L Green, et al.Human Mutation|January 11, 2000
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)S Prasad, R A Cucci, G E Green, et al.Human Mutation|January 11, 2000
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C contentJ L Escary, M Cécillon, J Maciazek, et al.Human Mutation|December 5, 2000
Mutational analysis of GLUT1 (SLC2A1) in glut-1 deficiency syndrome; dong wang; pamela kranz-eble; darryl C. De vivo; (Article was originally published in human mutation 16:224-231, 2000)Escary, Cecillon, Maciazek, et al.Pageof 583