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European Journal of Human Genetics : EJHG|March 14, 2000
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delGP Gasparini, R Rabionet, G Barbujani, et al.
European Journal of Human Genetics : EJHG|March 14, 2000
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostosesC Dobson-Stone, R D Cox, L Lonie, et al.
European Journal of Human Genetics : EJHG|March 14, 2000
Phenotypic variation and genetic heterogeneity in Léri-Weill syndromeS Schiller, S Spranger, B Schechinger, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defectG Gillessen-Kaesbach, S Demuth, H Thiele, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysisM De Rosa, M I Scarano, L Panariello, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndromeC Pucharcós, J J Fuentes, C Casas, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from AsiaL A Larsen, J S Armstrong, K Grønskov, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2M Genuardi, S Carrara, M Anti, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest SwedenF Enlund, L Samuelsson, C Enerbäck, et al.
European Journal of Human Genetics : EJHG|June 3, 1999
Analysis of mtDNA HVRII in several human populations using an immobilised SSO probe hybridisation assayD Comas, R Reynolds, A Sajantila
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