21. Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) geneMaja Pajek, Magdalena Avbelj Stefanija, Katarina Trebušak Podkrajšek, Jasna Šuput Omladič, Mojca Žerjav-Tanšek, Tadej Battelino, Urh Grošelj, 2020, original scientific article Keywords: thyroid, resistance to thyroid hormones, RTHβ, thyroid hormone receptor, THRB, hypothyroidism, hypercholesterolemia Full text (file, 480,09 KB) This document has more files! More... |
22. Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variantJasna Šuput Omladič, Maja Pajek, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj Stefanija, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger, 2021, original scientific article Keywords: familial non-autoimmune autosomal dominant hyperthyroidism, FNAH, TSHR, radioiodine ablation therapy, central hypothyroidism Full text (file, 785,05 KB) This document has more files! More... |
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24. Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutationNeli Bizjak, Mojca Žerjav-Tanšek, Magdalena Avbelj Stefanija, Barbka Repič-Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Grošelj, 2020, short scientific article Keywords: 3-MGA-I, 3-methylglutaconic aciduria type 1, precocious puberty, AUH gene, GnRH agonist, triptorelin Full text (file, 497,33 KB) This document has more files! More... |
25. Final adult height in children with central precocious puberty – a retrospective studyTaja Knific, Melisa Lazarevič, Janez Žibert, Nika Obolnar, Nataša Aleksovska, Jasna Šuput Omladič, Tadej Battelino, Magdalena Avbelj Stefanija, 2022, original scientific article Keywords: central precocious puberty, final adult height, gonadotropin-releasing hormone analog, triptorelin, growth, height prediction Full text (file, 1,66 MB) This document has more files! More... |
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27. Implementacija direktive EU 2013/34/EU v Sloveniji in njen vpliv na poenostavitev računovodenja v mikro in malih podjetjihMagdalena Denšer, 2015, master's thesis Keywords: EU, Slovenija, pravo, gospodarsko pravo, pravo družb, direktive ES, pravilniki, računovodstvo, bilance, zakonodaja, usklajevanje Full text (outside link) |
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