1. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variantJaka 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, 2022, original scientific article Keywords: tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variant
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2. Performance of nasopharyngeal swab and saliva in detecting Delta and Omicron SARS-CoV-2 variantsTina Uršič, Rok Kogoj, Jaka Šikonja, Damijana Roškarič, Monika Jevšnik Virant, Petra Bogovič, Miroslav Petrovec, 2022, original scientific article Keywords: SARS-CoV-2, nasopharyngeal swab, saliva, COVID‐19, real‐time RT‐PCR, SARS‐CoV‐2 diagnostics
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3. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature reviewKatarina 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, 2023, review article Keywords: phosphoribosyl pyrophosphate synthetase 1, PRPS1, PRS-I super-activity, PRS-I deficiency, Arts syndrome, X-linked Charcot-Marie-Tooth neuropathy type 5
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4. A simplified nasopharyngeal swab collection procedure for minimizing patient discomfort while retaining sample qualityTina Uršič, Rok Kogoj, Jaka Šikonja, Monika Jevšnik Virant, Miroslav Petrovec, 2023, original scientific article Keywords: nasopharyngeal swab, collection procedure, sample quality, discomfort score, Ubiquitin C
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5. Semaglutide improved sperm morphology in obese men with type 2 diabetes mellitus and functional hypogonadismNadan Gregorič, Jaka Šikonja, Andrej Janež, Mojca Jensterle Sever, 2025, original scientific article Keywords: functional hypogonadism, obesity, semaglutide, sperm, type 2 diabetes
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6. Case reportAna 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, 2024, other scientific articles Keywords: glycogen storage disease type 1B, GSD-1b, empagliflozin, SGLT2 inhibitor, neutropenia, inflammatory bowel disease, case series
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7. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and PakistanQuratul Ain, Jaka Šikonja, Katarina Trebušak Podkrajšek, Tadej Battelino, Zlatko Fras, Urh Grošelj, 2024, original scientific article Keywords: LPL, case series, hypertriglyceridemia, lipoprotein lipase, lipoprotein lipase deficiency, pancreatitis
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8. Prevalence, genetic variants, and clinical implications of hypocholesterolemia in childrenUrh Grošelj, Jan Kafol, Neža Molk, Katarina Sedej, Matej Mlinarič, Jaka Šikonja, Urša Šuštar, Barbara Čugalj Kern, Jernej Kovač, Tadej Battelino, Maruša Debeljak, 2025, original scientific article Keywords: APOB, children, hypocholesterolemia, next-generation sequencing, prevalence
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9. Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohortQuratul Ain, Jaka Šikonja, Fouzia Sadiq, Saeed Shafi, Jan Kafol, Tevž Gorjanc, Urša Šuštar, Jernej Kovač, Mohammad Iqbal Khan, Muhammad Ajmal, Urh Grošelj, 2025, original scientific article Keywords: cardiovascular disease, cascade screening, consanguineous, familial hypercholesterolemia, homozygous
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