Numbers

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

MSc theses (2)

1. Tadeja Lončar: Molekularno genetska analiza gena KCNH2 pri bolnikih s sindromom podaljšane dobe QT
2. Katarina Šilc: Klinična in genetska opredelitev anemije zaradi pomanjkanja železa pri otrocih

Other documents (9)

1. 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
2. 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
3. Urh Grošelj, Jan Kafol, Neža Molk, Katarina Sedej, Matej Mlinarič, Jaka Šikonja, Urša Šuštar, Barbara Čugalj Kern, Jernej Kovač, Tadej Battelino, Maruša Debeljak: Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children
4. Robert Šket, Barbara Slapnik, Primož Kotnik, Klementina Črepinšek, Barbara Čugalj Kern, Tine Tesovnik, Barbara Jenko Bizjan, Blaž Vrhovšek, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Jernej Kovač: Integrating genetic insights, technological advancements, screening, and personalized pharmacological interventions in childhood obesity
5. Gaja Markovič, Nataša Resnik, Aleksandar Janev, Daša Zupančič, Gašper Grubelnik, Maruša Debeljak, Maja Čemažar, Tanja Jesenko, Maša Omerzel, Tomaž Smrkolj, Mateja Erdani-Kreft: The role of focal adhesion kinase in bladder cancer
6. 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
7. 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
8. Tamara Rojnik, Robert Šket, Barbara Slapnik, Blaž Vrhovšek, Alenka Mavri, Maruša Debeljak, Mojca Božič Mijovski: Bridging laboratory assays, genetics, and clinical phenotypes in antithrombin deficiency
9. Karin Writzl, Tadej Žlahtič, Maruša Debeljak, Mirko Topalović, Martin Rauber, Bor Antolič, Anja Zupan Mežnar, Luka Klemen, Andrej Pernat, David Žižek, Matjaž Šinkovec: Nova vzročna različica SCN5A za Brugadov sindrom