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Rett syndrome and long-term disorder profile.
Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Smeets EE, et al. Am J Med Genet A. 2009 Feb;149A(2):199-205. doi: 10.1002/ajmg.a.32491. Am J Med Genet A. 2009. PMID: 19133691
Rett syndrome: a study of the face.
Allanson JE, Hennekam RC, Moog U, Smeets EE. Allanson JE, et al. Among authors: smeets ee. Am J Med Genet A. 2011 Jul;155A(7):1563-7. doi: 10.1002/ajmg.a.34027. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626673
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L. Halbach N, et al. Among authors: smeets ee. Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354166 Free PMC article.
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
Steinbusch CV, van Roozendaal KE, Tserpelis D, Smeets EE, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RC, Blok MJ, Schrander-Stumpel CT. Steinbusch CV, et al. Among authors: smeets ee. Clin Genet. 2013 Jan;83(1):73-7. doi: 10.1111/j.1399-0004.2012.01857.x. Epub 2012 Mar 15. Clin Genet. 2013. PMID: 22335494
Aging in people with specific genetic syndromes: Rett syndrome.
Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Halbach NS, et al. Among authors: smeets ee. Am J Med Genet A. 2008 Aug 1;146A(15):1925-32. doi: 10.1002/ajmg.a.32361. Am J Med Genet A. 2008. PMID: 18627042
Subtelomeric chromosome aberrations: still a lot to learn.
Moog U, Arens YH, van Lent-Albrechts JC, Huijts PE, Smeets EE, Schrander-Stumpel CT, Engelen JJ. Moog U, et al. Among authors: smeets ee. Clin Genet. 2005 Nov;68(5):397-407. doi: 10.1111/j.1399-0004.2005.00506.x. Clin Genet. 2005. PMID: 16207207
48 results