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European Journal of Human Genetics : EJHG|January 1, 1995
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1E Fransen, V Lemmon, G Van Camp, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferensB Costes, E Girodon, N Ghanem, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Characterization of phenylketonuria alleles in the Italian populationI Dianzani, S Giannattasio, L de Sanctis, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutationsA I Kuzmin, R C Eisensmith, A A Goltsov, et al.
European Journal of Human Genetics : EJHG|February 16, 2006
Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implicationsHenry T Lynch, C Richard Boland, Gordon Gong, et al.
European Journal of Human Genetics : EJHG|February 16, 2006
An utter refutation of the "fundamental theorem of the HapMap"Joseph D Terwilliger, Tero Hiekkalinna
European Journal of Human Genetics : EJHG|January 26, 2006
Highly discrepant proportions of female and male Scandinavian and British Isles ancestry within the isolated population of the Faroe IslandsThomas D Als, Tove H Jorgensen, Anders D Børglum, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseasesIben Bache, Mads Hjorth, Merete Bugge, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
A text-mining analysis of the human phenomeMarc A van Driel, Jorn Bruggeman, Gert Vriend, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure ProgramYen-Pei Christy Chang, James Dae-Ok Kim, Karen Schwander, et al.
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