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Mowat-Wilson syndrome: an underdiagnosed syndrome?
Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: moller rs. Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445050
Investigation of 4q-deletion in two unrelated patients using array CGH.
Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z. Kaalund SS, et al. Among authors: moller rs. Am J Med Genet A. 2008 Sep 15;146A(18):2431-4. doi: 10.1002/ajmg.a.32458. Am J Med Genet A. 2008. PMID: 18688872 No abstract available.
A cryptic unbalanced translocation resulting in del 13q and dup 15q.
Tészás A, Møller RS, Kellermayer R, Czakó M, Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G. Tészás A, et al. Among authors: moller rs. Am J Med Genet A. 2008 Oct 1;146A(19):2570-3. doi: 10.1002/ajmg.a.32394. Am J Med Genet A. 2008. PMID: 18792978 No abstract available.
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. Helbig I, et al. Among authors: moller rs. Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136953 Free PMC article.
282 results