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European Journal of Human Genetics : EJHG|August 4, 2005
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular levelJohn C K Barber, Viv Maloney, Edward J Hollox, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Analysis of four neuroligin genes as candidates for autismTero Ylisaukko-oja, Karola Rehnström, Mari Auranen, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
European Journal of Human Genetics : EJHG|March 5, 2004
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephalyBruno Pichon, Sophie Vankerckhove, Georges Bourrouillou, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transitionHyunho Kim, Yoonhee Bae, Woocho Jeong, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysisIgor N Lebedev, Nadezhda V Ostroverkhova, Tatyana V Nikitina, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndromeKatharina Maniura-Weber, Robert W Taylor, Margaret A Johnson, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palateDinamar A Gaspar, Sergio R Matioli, Rita de Cássia Pavanello, et al.
European Journal of Human Genetics : EJHG|January 22, 2004
Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter studyJulien Mendlewicz, Isabelle Massat, Daniel Souery, et al.
European Journal of Human Genetics : EJHG|January 22, 2004
Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindredM Plasilova, A M Russell, A Wanner, et al.
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