Showing 1 - 9 results of 9 for search 'Mojca Žerjav Tanšek', query time: 0.02s
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Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (<i>THRB</i>) Gene by Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Published 2020-12-01
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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature rev... by Neza Molk, Mojca Bitenc, Darja Urlep, Darja Urlep, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Sara Bertok, Sara Bertok, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Ursa Sustar, Ursa Sustar, Jernej Kovac, Jernej Kovac, Tadej Battelino, Tadej Battelino, Marusa Debeljak, Marusa Debeljak, Urh Groselj, Urh Groselj
Published 2023-06-01
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Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant by Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger
Published 2021-02-01
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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxyla... by Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj
Published 2023-03-01
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Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phen... by Dasa Perko, Urh Groselj, Vanja Cuk, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Barbka Repic Lampret
Published 2023-01-01
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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review by Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj
Published 2023-09-01
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Long-Term Follow-Up of Three Family Members with a Novel <i>NNT</i> Pathogenic Variant Causing Primary Adrenal Insufficiency by Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek, Marusa Debeljak, Sasa Ilovar, Katarina Trebusak Podkrajsek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic, Michaela F. Hartmann, Stefan A. Wudy, Magdalena Avbelj Stefanija, Tadej Battelino, Primoz Kotnik, Urh Groselj
Published 2022-04-01
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Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini by Tadej Jalšovec, dr. med., Benjamin Lah, dr. med., Maria Ester Bernardo, dr. med., Ana Drole Torkar, dr. med., Jana Kodrič, univ. dipl. psih., Mojca Žerjav Tanšek, dr. med., Simona Lucija Avčin, dr. med., Alessandro Aiuti, dr. med., Tadej Battelino, dr. med., Urh Grošelj, dr. med.
Published 2022-12-01
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