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 (9)

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, 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, 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