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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: jirsa m. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
Sticova E, Neroldova M, Kotalova R, Subhanova I, Jirsa M. Sticova E, et al. Among authors: jirsa m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Mar;164(1):121-125. doi: 10.5507/bp.2019.054. Epub 2019 Nov 15. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31728073 Free article.
ABCB4 disease: Many faces of one gene deficiency.
Sticova E, Jirsa M. Sticova E, et al. Among authors: jirsa m. Ann Hepatol. 2020 Mar-Apr;19(2):126-133. doi: 10.1016/j.aohep.2019.09.010. Epub 2019 Oct 31. Ann Hepatol. 2020. PMID: 31759867 Free article. Review.
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Neřoldová M, Stránecký V, Hodaňová K, Hartmannová H, Piherová L, Přistoupilová A, Mrázová L, Vrablík M, Adámková V, Hubáček JA, Jirsa M, Kmoch S. Neřoldová M, et al. Among authors: jirsa m. Pharmacogenomics. 2016 Aug;17(13):1405-14. doi: 10.2217/pgs-2016-0071. Epub 2016 Jun 14. Pharmacogenomics. 2016. PMID: 27296017
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
Dědič T, Jirsa M, Keil R, Rygl M, Šnajdauf J, Kotalová R. Dědič T, et al. Among authors: jirsa m. PLoS One. 2015 Nov 30;10(11):e0143939. doi: 10.1371/journal.pone.0143939. eCollection 2015. PLoS One. 2015. PMID: 26618708 Free PMC article.
Wilson disease as a cause of liver injury in cystic fibrosis.
Kotalová R, Jirsa M, Vávrová V, Vrábelová-Pouchlá S, Macek M Jr. Kotalová R, et al. Among authors: jirsa m. J Cyst Fibros. 2009 Jan;8(1):63-5. doi: 10.1016/j.jcf.2008.09.003. Epub 2008 Oct 23. J Cyst Fibros. 2009. PMID: 18948065 Free article.
279 results