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16p11.2 Duplication Syndrome - a Case Report.
Levkova M, Stoyanova M, Staneva R, Hachmeriyan M, Angelova L. Levkova M, et al. Among authors: angelova l. Folia Med (Plovdiv). 2021 Feb 28;63(1):138-141. doi: 10.3897/folmed.63.e52763. Folia Med (Plovdiv). 2021. PMID: 33650406
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. Chamova T, et al. Among authors: angelova l. Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13. Neuromuscul Disord. 2015. PMID: 26231298
15 results