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Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
Krasovec T, Sikonja J, Zerjav Tansek M, Debeljak M, Ilovar S, Trebusak Podkrajsek K, Bertok S, Tesovnik T, Kovac J, Suput Omladic J, Hartmann MF, Wudy SA, Avbelj Stefanija M, Battelino T, Kotnik P, Groselj U. Krasovec T, et al. Among authors: kotnik p. Genes (Basel). 2022 Apr 20;13(5):717. doi: 10.3390/genes13050717. Genes (Basel). 2022. PMID: 35627102 Free PMC article.
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Suput Omladic J, Pajek M, Groselj U, Trebusak Podkrajsek K, Avbelj Stefanija M, Zerjav Tansek M, Kotnik P, Battelino T, Smigoc Schweiger D. Suput Omladic J, et al. Among authors: kotnik p. Medicina (Kaunas). 2021 Feb 25;57(3):196. doi: 10.3390/medicina57030196. Medicina (Kaunas). 2021. PMID: 33669123 Free PMC article.
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Saho R, Dolzan V, Zerjav Tansek M, Pastorakova A, Petrovic R, Knapkova M, Trebusak Podkrajsek K, Suput Omladic J, Bertok S, Avbelj Stefanija M, Kotnik P, Battelino T, Pribilincova Z, Groselj U. Saho R, et al. Among authors: kotnik p. Front Endocrinol (Lausanne). 2023 Mar 17;14:1134133. doi: 10.3389/fendo.2023.1134133. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008950 Free PMC article.
70 results