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Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Gulácsy V, et al. Among authors: toth b. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. Mol Immunol. 2011. PMID: 21185603
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L. Soltész B, et al. Among authors: toth b. J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709754 Free PMC article.
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
Erdos M, Németh K, Tóth B, Constantin T, Rákóczi E, Ponyi A, Dajnoki A, Grubits J, Pintér I, Garzuly F, Hahn K, Bencsik K, Vécsei L, Fekete G, Maródi L. Erdos M, et al. Among authors: toth b. Mol Genet Metab. 2008 Dec;95(4):224-8. doi: 10.1016/j.ymgme.2008.09.002. Epub 2008 Oct 11. Mol Genet Metab. 2008. PMID: 18849176
1,115 results