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Št. zadetkov: 4
Tyrosafe - University of Maribor
Primož Podkrajšek, Kaja Čurin, Nadja Štumberger, Haris Šišić, Jernej Knez, Matjaž Šraml, Mitja Klemenčič
Druge monografije in druga zaključena dela
Oznake: varnost v cestnem prometu;pnevmatike;cestišča;
Izdelani wmw zapis je rezultat razpisa TYROSAFE: Tyre and Road Surface Optimisation for Skid resistance and Further Effects: http://tyrosafe.fehrl.org/), kjer so študentje s pomočjo svojih mentorjev izdelali film (in ga objavili na You Tube-e) na temo varnosti v cestnem prometu, s posebnim poudarkom ...
Leto: 2010 Vir: Fakulteta za gradbeništvo, prometno inženirstvo in arhitekturo (UM FGPA)
Detection of Del/Dup inside SHOX/PAR1 region in children and young adults with idiopathic short stature
Jera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik
Izvirni znanstveni članek
Oznake: idiopatska nizka rast;Sangerjevo zaporedje;otroci in mladostniki;idiopathic short stature;Sanger sequencing;children and young adults;
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
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, Maja Jakič, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger
Izvirni znanstveni članek
Oznake: familial non-autoimmune autosomal dominant hyperthyroidism;FNAH;TSHR;radioiodine ablation therapy;central hypothyroidism;
Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activa ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
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
Robert Saho, Vita Dolžan, Mojca Žerjav-Tanšek, Katarina Trebušak Podkrajšek, Jasna Šuput, Sara Bertok, Magdalena Avbelj, Primož Kotnik, Tadej Battelino, Urh Grošelj, Urh Grošelj
Izvirni znanstveni članek
Oznake: congenital adrenal hyperplasia;CAH;CYP21A2;genotype-phenotype;21 hydroxylase deficiency;21-OH deficiency;newborn screening;testicular adrenal rest tumors (TART);
Objective: To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. Design and methods: Data were obtained from ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 4
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