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Human Mutation|May 2, 2000
Mutations in the human TWIST geneGripp, Zackai, Stolle
Human Mutation|May 2, 2000
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutationsF Martinez di Montemuros, E Di Pierro, S Fargion, et al.
Human Mutation|May 2, 2000
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) geneN López-Bigas, R Rabionet, E Martínez, et al.
Human Mutation|May 2, 2000
Detection of point mutations of BCL10 gene in hepatocellular carcinoma tissues: report of 46 casesC Jihua, L Xisheng, C Shengli, et al.
Human Mutation|June 22, 2000
Twenty two novel mutations of the factor VII gene in factor VII deficiencyK Wulff, F H Herrmann
Human Mutation|June 22, 2000
Analysis of CDKN1C in Beckwith Wiedemann syndromeE Algar, S Brickell, G Deeble, et al.
Human Mutation|June 22, 2000
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patientsD S Warren, B D Wolfe, S J Gould
Human Mutation|June 22, 2000
Higher resolution microplate array diagonal gel electrophoresis: application to a multiallelic minisatelliteS D O'Dell, X Chen, I N Day
Human Mutation|June 22, 2000
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA proteinG Balta, J P de Winter, H Kayserili, et al.
Human Mutation|March 6, 2003
TP53 and gastric carcinoma: a reviewC M Fenoglio-Preiser, J Wang, G N Stemmermann, et al.
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