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Candidaemia in Central Slovenia: A 12-year retrospective survey.
Matos T, Lejko Zupanc T, Skofljanec A, Jazbec A, Matos E, Maver Vodičar P, Germ J, Ciglar T, Tomazin R, Kofol R, Mueller Premru M, Pirs M. Matos T, et al. Among authors: skofljanec a. Mycoses. 2021 Jul;64(7):753-762. doi: 10.1111/myc.13278. Epub 2021 Apr 13. Mycoses. 2021. PMID: 33786895
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: skofljanec a. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.