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European Journal of Human Genetics : EJHG|January 15, 2004
Advances in AAV-mediated gene transfer for the treatment of inherited disordersMarkus Hildinger, Alberto AuricchioEuropean Journal of Human Genetics : EJHG|June 17, 2004
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cellsMartina T McDonnell, Andrew M Schaefer, Emma L Blakely, et al.European Journal of Human Genetics : EJHG|March 18, 2004
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformationDamayanti R Sjarif, Christina Hellerud, Johannes K Ploos van Amstel, et al.European Journal of Human Genetics : EJHG|July 22, 2004
Mutation analysis of five candidate genes in Chinese patients with hypospadiasYanping Wang, Qiang Li, Jiajie Xu, et al.European Journal of Human Genetics : EJHG|July 22, 2004
Inverted duplications: how many of them are mosaic?Tiziano Pramparo, Sabrina Giglio, Giuliana Gregato, et al.European Journal of Human Genetics : EJHG|May 13, 2004
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosusMarta Barreto, Eugénia Santos, Ricardo Ferreira, et al.European Journal of Human Genetics : EJHG|May 27, 2004
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cellsBernadett Boda, Christophe Mas, Catherine Giudicelli, et al.European Journal of Human Genetics : EJHG|May 27, 2004
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotypeMorten Dunø, Eskild Colding-Jørgensen, Morten Grunnet, et al.European Journal of Human Genetics : EJHG|May 27, 2004
Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletionMariella Tancredi, Elisa Sensi, Giovanna Cipollini, et al.European Journal of Human Genetics : EJHG|February 12, 2004
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspectsWim Wuyts, Gerard Waeber, Peter Meinecke, et al.Pageof 563