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[Neurofibromatosis-1 microdeletion syndrome.].
Büki G, Till Á, Zsigmond A, Bene J, Hadzsiev K. Büki G, et al. Among authors: hadzsiev k. Orv Hetil. 2022 Dec 18;163(51):2041-2051. doi: 10.1556/650.2022.32673. Print 2022 Dec 18. Orv Hetil. 2022. PMID: 36528827 Review. Hungarian.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: hadzsiev k. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Among authors: hadzsiev k. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV. Balogh I, et al. Among authors: hadzsiev k. Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293579 Free PMC article.
Rehabilitation needs of a genetic counseling unit.
Aszmann M, Hadzsiev K, Kosztolányi G. Aszmann M, et al. Among authors: hadzsiev k. Genet Couns. 2005;16(4):417-9. Genet Couns. 2005. PMID: 16440886 No abstract available.
94 results