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The role of microRNAs in congenital heart disease.
Nagy O, Baráth S, Ujfalusi A. Nagy O, et al. Among authors: ujfalusi a. EJIFCC. 2019 Jun 24;30(2):165-178. eCollection 2019 Jun. EJIFCC. 2019. PMID: 31263391 Free PMC article. Review.
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: ujfalusi a. Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23. Mol Biol Rep. 2019. PMID: 31338750
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: ujfalusi a. Front Genet. 2021 Apr 29;12:635480. doi: 10.3389/fgene.2021.635480. eCollection 2021. Front Genet. 2021. PMID: 33995479 Free PMC article.
MED13L-related intellectual disability due to paternal germinal mosaicism.
Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K. Bessenyei B, et al. Among authors: ujfalusi a. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006124. doi: 10.1101/mcs.a006124. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34654706 Free PMC article.
59 results