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MSc theses (1)
Tadeja Lončar:
Molekularno genetska analiza gena KCNH2 pri bolnikih s sindromom podaljšane dobe QT
Other documents (2)
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
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