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Ethics of Vaccination in Childhood—A Framework Based on the Four Principles of Biomedical Ethics by Meta Rus, Urh Groselj
Published 2021-02-01
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Editorial: Rare dyslipidemias by Fouzia Sadiq, Robert A. Hegele, Alberico L. Catapano, Alberico L. Catapano, Urh Groselj, Urh Groselj
Published 2023-07-01
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A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review by Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Sabeen Abid Khan, Saeed Shafi, Iqbal Khan, Iqbal Khan, Jernej Kovac, Jernej Kovac, Barbara Jenko Bizjan, Tadej Battelino, Tadej Battelino, Fouzia Sadiq
Published 2022-08-01
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Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program by Ursa Sustar, Ursa Sustar, Urh Groselj, Urh Groselj, Urh Groselj, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tadej Battelino, Tinka Hovnik, Tinka Hovnik
Published 2022-07-01
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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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Newborn Screening in a Pandemic—Lessons Learned by Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj
Published 2023-04-01
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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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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham
Published 2022-05-01
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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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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Published 2021-03-01
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