-
Laurvick, CL, de Klerk, N, Bower, C, Christodoulou, J, Ravine, D, Ellaway, C, Williamson, S, Leonard, H.
Rett syndrome in Australia: a review of the epidemiology..
J Pediatr
148(3)
:
347 -352
2006
view publication
-
Tredano, M, Cooper, DN, Stuhrmann, M, Christodoulou, J, Chuzhanova, NA, Roudot-Thoraval, F, Boƫlle, P-Y, Elion, J, Jeanpierre, M, Feingold, J, et al.
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency..
Am J Med Genet A
140(1)
:
62 -69
2006
view publication
-
Mitchell, JJ, Wilcken, B, Alexander, I, Ellaway, C, O'Grady, H, Wiley, V, Earl, J, Christodoulou, J.
Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience..
Mol Genet Metab
86 Suppl 1:
S81 -S85
2005
view publication
-
Leonard, H, Moore, H, Carey, M, Fyfe, S, Hall, S, Robertson, L, Wu, XR, Bao, X, Pan, H, Christodoulou, J, et al.
Genotype and early development in Rett syndrome: the value of international data..
Brain Dev
27 Suppl 1:
S59 -S68
2005
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..
Eur J Hum Genet
13(11)
:
1235 -1238
2005
view publication