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Seizures in Rett syndrome: an overview from a one-year calendar study.
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Jian L, et al. Among authors: de klerk n. Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. doi: 10.1016/j.ejpn.2007.02.008. Epub 2007 Apr 11. Eur J Paediatr Neurol. 2007. PMID: 17433737 Free PMC article.
Health service use in Rett syndrome.
Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J, Weaving L, Davis M, Mulroy S, Colvin L. Moore H, et al. Among authors: de klerk n. J Child Neurol. 2005 Jan;20(1):42-50. doi: 10.1177/08830738050200010701. J Child Neurol. 2005. PMID: 15791922
p.R270X MECP2 mutation and mortality in Rett syndrome.
Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H. Jian L, et al. Among authors: de klerk n. Eur J Hum Genet. 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. Eur J Hum Genet. 2005. PMID: 16077729
Rett syndrome in Australia: a review of the epidemiology.
Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Laurvick CL, et al. Among authors: de klerk n. J Pediatr. 2006 Mar;148(3):347-52. doi: 10.1016/j.jpeds.2005.10.037. J Pediatr. 2006. PMID: 16615965
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.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Archer H, et al. Among authors: de klerk n. J Med Genet. 2007 Feb;44(2):148-52. doi: 10.1136/jmg.2006.045260. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905679 Free PMC article.
489 results