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[Arthrogryposis–renal dysfunction–cholestasis syndrome].
Mikó Á, Lóth S, Müller J, Lotz B, Rossitto P, Szabolcs A, Benyó G, Jávorszky E, Tory K, Dezsőfi A. Mikó Á, et al. Among authors: javorszky e. Orv Hetil. 2022 Jan 9;163(2):74-78. doi: 10.1556/650.2022.32312. Print 2022 Jan 9. Orv Hetil. 2022. PMID: 34999573 Hungarian.
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Lengyel A, Pinti É, Pikó H, Jávorszky E, David D, Tihanyi M, Gönczi É, Kiss E, Tóth Z, Tory K, Fekete G, Haltrich I. Lengyel A, et al. Among authors: javorszky e. Eur J Med Genet. 2020 Oct;63(10):104027. doi: 10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3. Eur J Med Genet. 2020. PMID: 32758661 Free article. Review.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: javorszky e. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
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: javorszky e. 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
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Szabó T, et al. Among authors: javorszky e. Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. Pediatr Nephrol. 2018. PMID: 29956005
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