Trebusak Podkrajsek K - Search Results

1

Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia.

Bratanic N, Kisand K, Avbelj Stefanija M, Battelino T, Trebusak Podkrajsek K. Bratanic N, et al. Among authors: trebusak podkrajsek k. Zdr Varst. 2015 Mar 13;54(2):112-8. doi: 10.1515/sjph-2015-0017. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646917 Free PMC article.

2

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Vesel S, Stopar-Obreza M, Trebusak-Podkrajsek K, Jazbec J, Podnar T, Battelino T. Vesel S, et al. Among authors: trebusak podkrajsek k. Eur J Hum Genet. 2003 Jan;11(1):97-101. doi: 10.1038/sj.ejhg.5200926. Eur J Hum Genet. 2003. PMID: 12529714

3

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

4

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes.

Kisand K, Link M, Wolff AS, Meager A, Tserel L, Org T, Murumägi A, Uibo R, Willcox N, Trebusak Podkrajsek K, Battelino T, Lobell A, Kämpe O, Lima K, Meloni A, Ergun-Longmire B, Maclaren NK, Perheentupa J, Krohn KJ, Scott HS, Husebye ES, Peterson P. Kisand K, et al. Among authors: trebusak podkrajsek k. Blood. 2008 Oct 1;112(7):2657-66. doi: 10.1182/blood-2008-03-144634. Epub 2008 Jul 7. Blood. 2008. PMID: 18606876 Free PMC article.

5

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients.

Pavlic A, Battelino T, Trebusak Podkrajsek K, Ovsenik M. Pavlic A, et al. Among authors: trebusak podkrajsek k. Eur J Orthod. 2011 Jun;33(3):325-31. doi: 10.1093/ejo/cjq089. Epub 2010 Nov 10. Eur J Orthod. 2011. PMID: 21068190

6

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

7

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

Kosem R, Debeljak M, Repič Lampret B, Kansky A, Battelino T, Trebušak Podkrajšek K. Kosem R, et al. Among authors: trebusak podkrajsek k. Dermatology. 2012;225(3):193-203. doi: 10.1159/000342509. Epub 2012 Oct 27. Dermatology. 2012. PMID: 23108224

8

Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder.

Kovač J, Macedoni Lukšič M, Trebušak Podkrajšek K, Klančar G, Battelino T. Kovač J, et al. Among authors: trebusak podkrajsek k. Autism Res. 2014 Feb;7(1):138-44. doi: 10.1002/aur.1345. Epub 2013 Oct 23. Autism Res. 2014. PMID: 24155217

9

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

10

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

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