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15. 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... |
16. Detection of del/dup inside SHOX/PAR1 region in children and young adults with idiopathic short statureJera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik, 2021, original scientific article Keywords: idiopathic short stature, Sanger sequencing, children and young adults, height, short stature, SHOX, MLPA Full text (file, 237,65 KB) This document has more files! More... |
17. The importance of early genetic diagnostics of hearing loss in childrenNina Božanić Urbančič, Saba Battelino, Tine Tesovnik, Katarina Trebušak Podkrajšek, 2020, review article Keywords: hearing loss, children, genetic diagnostics, genetic testing, etiology, benefits, health, family Full text (file, 1,09 MB) This document has more files! More... |
18. Opredelitev kriterijev za razširjeno presejanje novorojencev za vrojene bolezni presnoveAndraž Šmon, 2018, doctoral dissertation Keywords: biomedicina, farmacija, prirojene presnovne bolezni, zgodnja diagnostika, presejalni testi, novorojenčki, izbira kriterijev, ugotavljanje tveganj, Slovenija, ocene pogostosti, izbira metod, analize, doktorske disertacije Full text (file, 2,26 MB) |
19. Assessment of the telomere length and its effect on the symptomatology of Parkinson's diseaseTina Levstek, Sara Redenšek Trampuž, Maja Trošt, Vita Dolžan, Katarina Trebušak Podkrajšek, 2021, original scientific article Keywords: Parkinson's disease, telomere length, levodopa treatment, telomere attrition, dementia Full text (file, 737,20 KB) This document has more files! More... |
20. The possible influence of genetic aetiological factors on molar–incisor hypomineralisationLuka Hočevar, Jernej Kovač, Katarina Trebušak Podkrajšek, Saba Battelino, Alenka Pavlič, 2020, original scientific article Keywords: molar–incisor hypomineralisation, aetiology, single nucleotide polymorphism Full text (file, 1,05 MB) This document has more files! More... |