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European Journal of Human Genetics : EJHG|November 4, 2004
Uroplakin III is not a major candidate gene for primary vesicoureteral refluxHelena Kelly, Sean Ennis, Akihiro Yoneda, et al.European Journal of Human Genetics : EJHG|November 4, 2004
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patientsChristina Brahe, Tiziana Vitali, Francesco D Tiziano, et al.European Journal of Human Genetics : EJHG|November 4, 2004
Mutation screening and association analysis of six candidate genes for autism on chromosome 7qElena Bonora, Janine A Lamb, Gabrielle Barnby, et al.European Journal of Human Genetics : EJHG|October 16, 2004
Evaluation of NSD2 and NSD3 in overgrowth syndromesJenny Douglas, Kim Coleman, Katrina Tatton-Brown, et al.European Journal of Human Genetics : EJHG|October 16, 2004
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complexMark Nellist, Ozgur Sancak, Miriam A Goedbloed, et al.European Journal of Human Genetics : EJHG|June 2, 2005
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyErnie M H F Bongers, Frans T Huysmans, Elena Levtchenko, et al.European Journal of Human Genetics : EJHG|May 12, 2005
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2IPatrick Frosk, Marc R Del Bigio, Klaus Wrogemann, et al.European Journal of Human Genetics : EJHG|May 12, 2005
Short tandem repeats haplotyping of the HLA region in preimplantation HLA matchingFrancesco Fiorentino, Semra Kahraman, Hüseyin Karadayi, et al.European Journal of Human Genetics : EJHG|May 12, 2005
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesityJoakim Klar, Bengt Asling, Birgit Carlsson, et al.European Journal of Human Genetics : EJHG|September 22, 2005
A review of international and UK-based ethical guidelines for researchers conducting nontherapeutic genetic studies in developing countriesShormila Roy Choudhury, Leslie A KnappPageof 563