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Bibliography of the person, including all types of documents, not only theses.

BSc theses (2)

1. Monika Ošlak: Prader-Willijev sindrom: izkušnje staršev z oporo zdravstvenih delavcev v obdobju dojenčka
2. Tina Hrast: Presejalni testi novorojenčka – poznavanje in uspehi dosedanjega presejanja v Sloveniji in v tujini

Other documents (14)

1. Mojca Žerjav-Tanšek, Jana Kodrič, Simona Klemenčič, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Dorič, Alenka Koren, Simona Avčin, Tadej Battelino, Urh Grošelj: Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome)
2. Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebušak Podkrajšek, Jasna Šuput Omladič, Mojca Žerjav-Tanšek, Tadej Battelino, Urh Grošelj: Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) gene
3. Jaka Šikonja, Jernej Brecelj, Mojca Žerjav-Tanšek, Barbka Repič-Lampret, Ana Drole Torkar, Simona Klemenčič, Neža Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovač, Barbara Faganel Kotnik, Markéta Tesařová, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Urh Grošelj: Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
4. Jasna Šuput Omladič, Maja Pajek, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj Stefanija, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger: Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant
5. Dalibor Stanimirović, Eva Murko, Tadej Battelino, Urh Grošelj, Mojca Žerjav-Tanšek: Towards a comprehensive strategy for the management of rare diseases in Slovenia
6. Tatiana Marusic, Mojca Žerjav-Tanšek, Andreja Širca-Čampa, Ajda Mezek Novak, Pavel Berden, Tadej Battelino, Urh Grošelj: Data highlighting effects of ketogenic diet on cardiomyopathy and hepatopathy in glycogen storage disease type IIIa
7. Neli Bizjak, Mojca Žerjav-Tanšek, Magdalena Avbelj Stefanija, Barbka Repič-Lampret, Ajda Mezek Novak, Ana Drole Torkar, Tadej Battelino, Urh Grošelj: Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
8. 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: Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
9. Daša Perko, Urh Grošelj, Vanja Čuk, Žiga Iztok Remec, Mojca Žerjav-Tanšek, Ana Drole Torkar, Blaž Krhin, Ajda Biček, Adrijana Oblak, Tadej Battelino, Barbka Repič-Lampret: Comparison of tandem mass spectrometry and the fluorometric method
10. Ana Klinc, Urh Grošelj, Matej Mlinarič, Matjaž Homan, Gašper Markelj, Ajda Mezek Novak, Andreja Širca-Čampa, Jaka Šikonja, Tadej Battelino, Mojca Žerjav-Tanšek, Ana Drole Torkar: Case report
11. Ana Drole Torkar, Ana Klinc, Branislava Ranković, Maruša Debeljak, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj: Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disorders
12. Maja Filipič, Žiga Iztok Remec, Ana Drole Torkar, Nataša Šuštar, Vanja Čuk, Chiara Rodaro, Maruša Debeljak, Matej Mlinarič, Jaka Šikonja, Vesna Bančič, Primož Kotnik, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Barbka Repič-Lampret: Branched-chain amino acid transferase 2 (BCAT2) deficiency
13. Nika Požun, Daša Perko, Tadej Battelino, Ana Drole Torkar, Matej Mlinarič, Mojca Žerjav-Tanšek, Urh Grošelj: Current status of newborn screening in Southeastern and Central Europe
14. Robert Saho, Vita Dolžan, Mojca Žerjav-Tanšek, Katarina Trebušak Podkrajšek, Jasna Šuput Omladič, Sara Bertok, Magdalena Avbelj Stefanija, Primož Kotnik, Tadej Battelino, Urh Grošelj: 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