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Page 1
Universal screening for familial hypercholesterolemia in 2 populations.
Sustar U, Kordonouri O, Mlinaric M, Kovac J, Arens S, Sedej K, Jenko Bizjan B, Trebusak Podkrajsek K, Danne T, Battelino T, Groselj U. Sustar U, et al. Among authors: trebusak podkrajsek k. Genet Med. 2022 Oct;24(10):2103-2111. doi: 10.1016/j.gim.2022.06.010. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35913489 Free article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: trebusak podkrajsek k. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
Avbelj M, Hocevar M, Trebusak-Podkrajsek K, Krzisnik C, Battelino T. Avbelj M, et al. Among authors: trebusak podkrajsek k. Melanoma Res. 2003 Dec;13(6):567-70. doi: 10.1097/01.cmr.0000056289.15046.c0. Melanoma Res. 2003. PMID: 14646619
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. 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: trebusak podkrajsek k. 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
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
Avbelj Stefanija M, Kotnik P, Bratanič N, Žerjav Tanšek M, Bertok S, Bratina N, Battelino T, Trebušak Podkrajšek K. Avbelj Stefanija M, et al. Among authors: trebusak podkrajsek k. Horm Res Paediatr. 2015;84(3):153-8. doi: 10.1159/000433468. Epub 2015 Jun 24. Horm Res Paediatr. 2015. PMID: 26111865
63 results