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Page 1
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: bratanic n. Horm Res Paediatr. 2015;84(3):153-8. doi: 10.1159/000433468. Epub 2015 Jun 24. Horm Res Paediatr. 2015. PMID: 26111865
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.
Bratanič N, Kovač J, Pohar K, Trebušak Podkrajšek K, Ihan A, Battelino T, Avbelj Stefanija M. Bratanič N, et al. Orphanet J Rare Dis. 2017 Jul 18;12(1):131. doi: 10.1186/s13023-017-0682-5. Orphanet J Rare Dis. 2017. PMID: 28720148 Free PMC article.
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: bratanic n. 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: bratanic n. 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
31 results