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Page 1
Rett syndrome: clinical review and genetic update.
J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730.
J Med Genet. 2005.
PMID: 15635068
Free PMC article.
Review.
MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.
Christodoulou J, Weaving LS.
Christodoulou J, et al. Among authors: weaving ls.
J Child Neurol. 2003 Oct;18(10):669-74. doi: 10.1177/08830738030180100901.
J Child Neurol. 2003.
PMID: 14649547
Review.
Item in Clipboard
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J.
Weaving LS, et al.
Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053.
Am J Med Genet A. 2003.
PMID: 12655490
Item in Clipboard
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.
Weaving LS, et al.
Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18.
Am J Hum Genet. 2004.
PMID: 15492925
Free PMC article.
Item in Clipboard
Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites.
Christodoulou J, Craig HJ, Walker DC, Weaving LS, Pearson CE, McInnes RR.
Christodoulou J, et al. Among authors: weaving ls.
Hum Mutat. 2006 Nov;27(11):1065-71. doi: 10.1002/humu.20352.
Hum Mutat. 2006.
PMID: 16941645
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