-
Archer, H, Evans, J, Leonard, H, Colvin, L, Ravine, D, Christodoulou, J, Williamson, S, Charman, T, Bailey, MES, Sampson, J, et al.
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation..
J Med Genet
44(2)
:
148 -152
2007
view publication
-
Chiong, MA, Sim, KG, Carpenter, K, Rhead, W, Ho, G, Olsen, RKJ, Christodoulou, J.
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency..
Mol Genet Metab
92(1-2)
:
109 -114
2007
view publication
-
Christodoulou, J, Craig, HJ, Walker, DC, Weaving, LS, Pearson, CE, McInnes, RR.
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites..
Hum Mutat
27(11)
:
1065 -1071
2006
view publication
-
Jian, L, Nagarajan, L, de Klerk, N, Ravine, D, Bower, C, Anderson, A, Williamson, S, Christodoulou, J, Leonard, H.
Predictors of seizure onset in Rett syndrome..
J Pediatr
149(4)
:
542 -547
2006
view publication
-
Ager, S, Fyfe, S, Christodoulou, J, Jacoby, P, Schmitt, L, Leonard, H.
Predictors of scoliosis in Rett syndrome..
J Child Neurol
21(9)
:
809 -813
2006
view publication