Huppke, P, Brendel, C, Korenke, GC, Marquardt, I, Donsante, A, Yi, L, Hicks, JD, Steinbach, PJ, Wilson, C, Elpeleg, O, et al. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.. Hum Mutat 33(8) : 1207 -1215 2012
view publication
Middleton, A, Selvadurai, H, Christodoulou, J, Munns, C. 192 Whole body vibration training for children with cystic fibrosis. Journal of Cystic Fibrosis 11: s105 2012
view publication
Georgiou, T, Ho, G, Vogazianos, M, Dionysiou, M, Nicolaou, A, Chappa, G, Nicolaides, P, Stylianidou, G, Christodoulou, J, Drousiotou, A. The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.. Clin Biochem 45(7-8) : 588 -592 2012
view publication
Armani, R, Archer, H, Clarke, A, Vasudevan, P, Zweier, C, Ho, G, Williamson, S, Cloosterman, D, Yang, N, Christodoulou, J. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.. Am J Med Genet A 158A(4) : 713 -719 2012
view publication
Christodoulou, J. Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.. J Paediatr Child Health 48(3) : E153 -E155 2012
view publication