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1. Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) gene
Maja 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
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2. Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant
Jasna 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
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3. Opredelitev genetskih vzrokov prezgodnje pubertete
Kaja Mivšek, 2018, master's thesis

Keywords: prezgodnja puberteta sekvenciranje genoma bioinformatska analiza sekvenciranje po Sangerju lažno pozitiven rezultat
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4. Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
Neli Bizjak, Mojca Žerjav-Tanšek, Magdalena Avbelj Stefanija, Barbka Repič-Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Grošelj, 2020, other scientific articles

Keywords: 3-MGA-I, 3-methylglutaconic aciduria type 1, precocious puberty, AUH gene, GnRH agonist, triptorelin
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5. Final adult height in children with central precocious puberty – a retrospective study
Taja 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
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6. Vpliv akutne hiperglikemije na delovanje kognitivnih področij možganov pri otrocih s sladkorno boleznijo tipa 1
Jasna Šuput Omladič, 2021, doctoral dissertation

Keywords: sladkorna bolezen tipa1, akutna hiperglikemija, mladostniki, struktura možgan, spektroskopia, kognitivne funkcije, vnetje
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7. Analiza genetskih in metilacijskih sprememb gena MKRN3 pri bolnikih s prezgodnjo puberteto
Eva Novak, 2019, master's thesis/paper

Keywords: Družinska centralna prezgodnja puberteta, sekvenciranje po Sangerju, MS-MLPA, MKRN3, nova kandidatna sprememba
Full text (file, 1,71 MB)

8. Sekvenciranje celotnega genoma bolnikov s hipogonadotropnim hipogonadizmom
Nika Breznik, 2023, master's thesis/paper

Keywords: hipogonadotropni hipogonadizem, Kallmannov sindrom, normozmični idiopatski hipogonadotropni hipogonadizem, sekvenciranje celotnega genoma
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