日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity

增强型口服葡萄糖耐量试验用于早期检测肥胖儿童的胰岛素抵抗和代谢并发症

Groselj, Urh; Kafol, Jan; Sikonja, Jaka; Mlinaric, Matej; Sket, Robert; Remec, Ziga Iztok; Kovac, Jernej; Drole Torkar, Ana; Suput Omladic, Jasna; Repic Lampret, Barbka; Battelino, Tadej; Kotnik, Primoz

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

遗传和临床特征,包括斯洛伐克和斯洛文尼亚先天性肾上腺皮质增生症(由21-羟化酶缺乏症引起)患者睾丸肾上腺残余肿瘤的发生情况。

Saho, Robert; Dolzan, Vita; Zerjav Tansek, Mojca; Pastorakova, Andrea; Petrovic, Robert; Knapkova, Maria; Trebusak Podkrajsek, Katarina; Suput Omladic, Jasna; Bertok, Sara; Avbelj Stefanija, Magdalena; Kotnik, Primoz; Battelino, Tadej; Pribilincova, Zuzana; Groselj, Urh

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

对携带新型NNT致病变异导致原发性肾上腺皮质功能不全的三名家庭成员进行长期随访

Krasovec, Tjasa; Sikonja, Jaka; Zerjav Tansek, Mojca; Debeljak, Marusa; Ilovar, Sasa; Trebusak Podkrajsek, Katarina; Bertok, Sara; Tesovnik, Tine; Kovac, Jernej; Suput Omladic, Jasna; Hartmann, Michaela F; Wudy, Stefan A; Avbelj Stefanija, Magdalena; Battelino, Tadej; Kotnik, Primoz; Groselj, Urh

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

一例由新型促甲状腺激素受体致病变异引起的家族性非免疫性常染色体显性遗传性甲亢患者的中枢促甲状腺激素调节障碍

Suput Omladic, Jasna; Pajek, Maja; Groselj, Urh; Trebusak Podkrajsek, Katarina; Avbelj Stefanija, Magdalena; Zerjav Tansek, Mojca; Kotnik, Primoz; Battelino, Tadej; Smigoc Schweiger, Darja

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene

两名兄妹因甲状腺激素受体(THRB)基因致病变异而出现甲状腺激素抵抗,并患有高胆固醇血症

Pajek, Maja; Avbelj Stefanija, Magdalena; Trebusak Podkrajsek, Katarina; Suput Omladic, Jasna; Zerjav Tansek, Mojca; Battelino, Tadej; Groselj, Urh