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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: battelino t. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324
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: battelino t. Melanoma Res. 2003 Dec;13(6):567-70. doi: 10.1097/01.cmr.0000056289.15046.c0. Melanoma Res. 2003. PMID: 14646619
Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T. Podkrajsek KT, et al. Among authors: battelino t. J Clin Endocrinol Metab. 2005 Aug;90(8):4930-5. doi: 10.1210/jc.2005-0418. Epub 2005 May 10. J Clin Endocrinol Metab. 2005. PMID: 15886230
Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.
Podkrajsek KT, Milenković T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T. Podkrajsek KT, et al. Among authors: battelino t. Eur J Endocrinol. 2008 Nov;159(5):633-9. doi: 10.1530/EJE-08-0328. Epub 2008 Aug 5. Eur J Endocrinol. 2008. PMID: 18682433
377 results