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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant.
Sikonja J, Brecelj J, Zerjav Tansek M, Repic Lampret B, Drole Torkar A, Klemencic S, Lipovec N, Stefanova Kralj V, Bertok S, Kovac J, Faganel Kotnik B, Tesarova M, Remec ZI, Debeljak M, Battelino T, Groselj U. Sikonja J, et al. Among authors: kovac j. Mol Genet Metab Rep. 2021 Dec 16;30:100836. doi: 10.1016/j.ymgmr.2021.100836. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242570 Free PMC article.
GPR143 gene mutation analysis in pediatric patients with albinism.
Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. Trebušak Podkrajšek K, et al. Among authors: kovac j. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K. Battelino S, et al. Among authors: kovac j. Eur Arch Otorhinolaryngol. 2016 May;273(5):1151-4. doi: 10.1007/s00405-015-3671-0. Epub 2015 Jun 3. Eur Arch Otorhinolaryngol. 2016. PMID: 26036852
Universal Screening for Familial Hypercholesterolemia in Children.
Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, Trebušak Podkrajšek K, Battelino T. Klančar G, et al. Among authors: kovac j. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-1257. doi: 10.1016/j.jacc.2015.07.017. J Am Coll Cardiol. 2015. PMID: 26361156 Free article.
665 results