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European Journal of Human Genetics : EJHG|May 4, 2006
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidosesEwa Piotrowska, Joanna Jakóbkiewicz-Banecka, Sylwia Barańska, et al.
European Journal of Human Genetics : EJHG|August 10, 2006
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 geneEva Klopocki, Luitgard M Neumann, Holger Tönnies, et al.
European Journal of Human Genetics : EJHG|August 17, 2006
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)Jozef Gécz, Gillian Turner, John Nelson, et al.
European Journal of Human Genetics : EJHG|March 30, 2006
Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19Marcela Karey Tello-Ruiz, Christine Curley, Terrye DelMonte, et al.
European Journal of Human Genetics : EJHG|November 29, 2007
The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletesStephen M Roth, Sean Walsh, Dongmei Liu, et al.
European Journal of Human Genetics : EJHG|November 29, 2007
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptorKristina Becker, Hans-Georg Breitinger, Andreas Humeny, et al.
European Journal of Human Genetics : EJHG|March 16, 2006
A novel mutation in JARID1C gene associated with mental retardationCristina Santos, Laia Rodriguez-Revenga, Irene Madrigal, et al.
European Journal of Human Genetics : EJHG|March 16, 2006
New variants in the mitochondrial genomes of schizophrenic patientsLourdes Martorell, Teresa Segués, Gerard Folch, et al.
European Journal of Human Genetics : EJHG|March 16, 2006
Use of phenotypic covariates in association analysis by sequential addition of casesStuart Macgregor, Nick Craddock, Peter A Holmans
European Journal of Human Genetics : EJHG|February 24, 2006
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effectMireille Cossée, Bénédicte Demeer, Patricia Blanchet, et al.
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