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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
Nagy D, Farkas K, Armengol L, Segura M, Esi Zodanu GK, Csányi B, Zimmermann A, Vámos B, Széll M. Nagy D, et al. Among authors: szell m. Eur J Med Genet. 2020 Apr;63(4):103800. doi: 10.1016/j.ejmg.2019.103800. Epub 2019 Oct 31. Eur J Med Genet. 2020. PMID: 31678216 Review. No abstract available.
[Genetic aspects of Gorlin‒Goltz syndrome].
Vetró É, Oláh J, Nagy D, Széll M, Piffkó J, Seres L. Vetró É, et al. Among authors: szell m. Orv Hetil. 2020 Dec 6;161(49):2072-2077. doi: 10.1556/650.2020.31933. Print 2020 Dec 6. Orv Hetil. 2020. PMID: 33279882 Review. Hungarian.
Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.
Zodanu GKE, Oszlánczi M, Havasi K, Kalapos A, Rácz G, Katona M, Ujfalusi A, Nagy O, Széll M, Nagy D. Zodanu GKE, et al. Among authors: szell m. Front Genet. 2021 Apr 29;12:635480. doi: 10.3389/fgene.2021.635480. eCollection 2021. Front Genet. 2021. PMID: 33995479 Free PMC article.
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M. Pál M, et al. Among authors: szell m. Int J Mol Sci. 2023 Apr 17;24(8):7401. doi: 10.3390/ijms24087401. Int J Mol Sci. 2023. PMID: 37108562 Free PMC article.
166 results