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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Among authors: trunzo r. Clin Genet. 2022 Feb;101(2):247-254. doi: 10.1111/cge.14081. Epub 2021 Nov 6. Clin Genet. 2022. PMID: 34708404
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.
Bottigliero D, Monaco I, Santacroce R, Casavecchia G, Correale M, Guastafierro F, Leccese A, Cordisco G, Ieva R, Trunzo R, Di Biase M, Margaglione M, Brunetti ND. Bottigliero D, et al. Among authors: trunzo r. J Interv Card Electrophysiol. 2019 Nov;56(2):171-172. doi: 10.1007/s10840-019-00606-y. Epub 2019 Aug 15. J Interv Card Electrophysiol. 2019. PMID: 31418098 Review. No abstract available.
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R, Santacroce R, D'Andrea G, Longo V, De Girolamo G, Dimatteo C, Leccese A, Lillo V, Papadia F, Margaglione M. Trunzo R, et al. Clin Biochem. 2013 Dec;46(18):1896-8. doi: 10.1016/j.clinbiochem.2013.06.009. Epub 2013 Jun 18. Clin Biochem. 2013. PMID: 23792259
[TRPC6 mutations in children with steroid-resistant nephrotic syndrome].
Gigante M, Caridi G, Montemurno E, Trunzo R, Schirinzi A, Aucella F, Messina G, Massella L, Ranieri E, Ghiggeri GM, Gesualdo L. Gigante M, et al. Among authors: trunzo r. G Ital Nefrol. 2011 Jul-Aug;28(4):350-2. G Ital Nefrol. 2011. PMID: 21809298 Italian. No abstract available.
15 results