-
Tümer, Z, Horn, N, Tønnesen, T, Christodoulou, J, Clarke, JTR, Sarkar, B. Early copper-histidine treatment for Menkes disease.
Nature Genetics
12(1)
:
11 -13
1996
view publication
-
Leonard, H, Colvin, L, Christodoulou, J, Schiavello, T, Williamson, S, Davis, M, Ravine, D, Fyfe, S, de Klerk, N, Matsuishi, T, et al. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?.
Journal of Medical Genetics
40(5)
:
e52 -e52
2003
view publication
-
Fehr, S, Wilson, M, Downs, J, Williams, S, Murgia, A, Sartori, S, Vecchi, M, Ho, G, Polli, R, Psoni, S, et al. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
European Journal of Human Genetics
21(3)
:
266 -273
2012
view publication
-
Jian, L, Archer, HL, Ravine, D, Kerr, A, de Klerk, N, Christodoulou, J, Bailey, MES, Laurvick, C, Leonard, H. p.R270X MECP2 mutation and mortality in Rett syndrome.
European Journal of Human Genetics
13(11)
:
1235 -1238
2005
view publication
-
Sim, KG, Carpenter, K, Hammond, J, Christodoulou, J, Wilcken, B. Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid β-oxidation defects: phenotype/metabolite correlations.
Molecular Genetics and Metabolism
76(4)
:
327 -334
2002
view publication