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Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma.
Brečević L, Rinčić M, Krsnik Ž, Sedmak G, Hamid AB, Kosyakova N, Galić I, Liehr T, Borovečki F. Brečević L, et al. Transl Neurosci. 2015 Mar 2;6(1):59-86. doi: 10.1515/tnsci-2015-0007. eCollection 2015. Transl Neurosci. 2015. PMID: 28123791 Free PMC article. Review.
Human Ring Chromosomes - New Insights for their Clinical Significance.
Guilherme R, Klein E, Hamid A, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M, Manolakos E, Kosyakova N, Liehr T. Guilherme R, et al. Among authors: brecevic l. Balkan J Med Genet. 2013 Jun;16(1):13-20. doi: 10.2478/bjmg-2013-0013. Balkan J Med Genet. 2013. PMID: 24265580 Free PMC article.
Heteromorphic variants of chromosome 9.
Kosyakova N, Grigorian A, Liehr T, Manvelyan M, Simonyan I, Mkrtchyan H, Aroutiounian R, Polityko AD, Kulpanovich AI, Egorova T, Jaroshevich E, Frolova A, Shorokh N, Naumchik IV, Volleth M, Schreyer I, Nelle H, Stumm M, Wegner RD, Reising-Ackermann G, Merkas M, Brecevic L, Martin T, Rodríguez L, Bhatt S, Ziegler M, Kreskowski K, Weise A, Sazci A, Vorsanova S, Cioffi Mde B, Ergul E. Kosyakova N, et al. Among authors: brecevic l. Mol Cytogenet. 2013 Apr 1;6(1):14. doi: 10.1186/1755-8166-6-14. Mol Cytogenet. 2013. PMID: 23547710 Free PMC article.
Somatic mosaicism in cases with small supernumerary marker chromosomes.
Liehr T, Karamysheva T, Merkas M, Brecevic L, Hamid AB, Ewers E, Mrasek K, Kosyakova N, Weise A. Liehr T, et al. Among authors: brecevic l. Curr Genomics. 2010 Sep;11(6):432-9. doi: 10.2174/138920210793176029. Curr Genomics. 2010. PMID: 21358988 Free PMC article.
45 results