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Page 1
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. 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.
Aging in Rett syndrome: a longitudinal study.
Halbach NS, Smeets EE, Steinbusch C, Maaskant MA, van Waardenburg D, Curfs LM. Halbach NS, et al. Clin Genet. 2013 Sep;84(3):223-9. doi: 10.1111/cge.12063. Epub 2012 Dec 7. Clin Genet. 2013. PMID: 23167724
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group. Pini G, et al. Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430159
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. 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