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Ellaway, CJ, Badawi, N, Raffaele, L, Christodoulou, J, Leonard, H.
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening..
Clin Dysmorphol
10(3)
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2001
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Ellaway, C, Christodoulou, J.
Rett syndrome: clinical characteristics and recent genetic advances..
Disabil Rehabil
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2001
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Grattan-Smith, PJ, Healey, S, Grigg, JR, Christodoulou, J.
Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation..
J Paediatr Child Health
37(1)
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2001
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Carpente, KH, Wilcken, B, Christodoulou, J, Thorburn, DR.
Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis..
J Inherit Metab Dis
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2000
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Leonard, H, Fyfe, S, Dye, D, Hockey, A, Christodoulou, J.
Family data in Rett syndrome: association with other genetic disorders..
J Paediatr Child Health
36(4)
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2000
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