| Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients D Perko, M Debeljak, N Toplak, T Avčin Mediators of Inflammation 2015 (1), 293417, 2015 | 105 | 2015 |
| Next generation sequencing as a follow-up test in an expanded newborn screening programme A Smon, BR Lampret, U Groselj, MZ Tansek, J Kovac, D Perko, S Bertok, ... Clinical biochemistry 52, 48-55, 2018 | 68 | 2018 |
| Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing BR Lampret, ŽI Remec, AD Torkar, MŽ Tanšek, A Šmon, V Koračin, V Čuk, ... Slovenian Journal of Public Health 59 (4), 256-263, 2020 | 41 | 2020 |
| The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations M Debeljak, N Toplak, N Abazi, B Szabados, V Mulaosmanović, ... Clin Exp Rheumatol 33 (6 Suppl 94), S19-23, 2015 | 33 | 2015 |
| Very long-chain acyl-CoA dehydrogenase deficiency: High incidence of detected patients with expanded newborn screening program ZI Remec, U Groselj, A Drole Torkar, M Zerjav Tansek, V Cuk, D Perko, ... Frontiers in Genetics 12, 648493, 2021 | 10 | 2021 |
| PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome E Lovšin, J Kovač, T Tesovnik, N Toplak, D Perko, T Rozmarič, ... Frontiers in Immunology 11, 1322, 2020 | 10 | 2020 |
| Comparison of tandem mass spectrometry and the fluorometric method—Parallel phenylalanine measurement on a large fresh sample series and implications for newborn screening for … D Perko, U Groselj, V Cuk, Z Iztok Remec, M Zerjav Tansek, ... International journal of molecular sciences 24 (3), 2487, 2023 | 8 | 2023 |
| Optimizing the phenylalanine cut-off value in a newborn screening program D Perko, B Repic Lampret, ZI Remec, M Zerjav Tansek, A Drole Torkar, ... Genes 13 (3), 517, 2022 | 5 | 2022 |
| Newborn Screening in a Pandemic—Lessons Learned M Mlinaric, JR Bonham, V Kožich, S Kölker, O Majek, T Battelino, ... International Journal of Neonatal Screening 9 (2), 21, 2023 | 3 | 2023 |
| PReS-FINAL-2209: MEFV gene mutations in central and south-eastern European countries D Perko, M Debeljak, N Toplak, A Sediva, T Dallos, M Harjaček, M Jelušič, ... Pediatric Rheumatology 11, 1-2, 2013 | 2 | 2013 |
| MEFV and NLRP3 gene variants in children with pfapa syndrome in slovenia D Perko, M Debeljak, N Toplak, T Avčin Pediatric Rheumatology 12 (1), 1-1, 2014 | 1 | 2014 |
| 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 … A Drole Torkar, A Klinc, ZI Remec, B Rankovic, K Bartolj, S Bertok, S Colja, ... International Journal of Neonatal Screening 11 (1), 9, 2025 | | 2025 |
| Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program. Genes 2022, 13, 517 D Perko, B Repic Lampret, ZI Remec, M Zerjav Tansek, A Drole Torkar, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2022 | | 2022 |
| THU0019 INTRON REGIONS OF PIK3AP1 (BCAP) AND SPON2 (SPONDIN-2) GENES ARE DIFFERENTIALLY METHYLATED IN PATIENTS WITH PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND … E Lovšin, J Kovac, T Tesovnik, N Toplak, D Perko, T Rozmarič, ... Annals of the Rheumatic Diseases 79 (Suppl 1), 223-223, 2020 | | 2020 |
| Genetske značilnosti otrok s periodičnimi vročinskim sindromom z aftami, tonzilitisom in adenitisom: doktorska naloga D Perko D. Perko, 2019 | | 2019 |
| Genetske značilnosti otrok s periodičnim vročinskim sindromom z aftami, tonzilitisom in adenitisom D Perko Univerza v Ljubljani, Medicinska fakulteta, 2019 | | 2019 |
| CXCL10 in CXCL9 genetic variants in children with Periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis (PFAPA) D Perko, M Debeljak, N Toplak, T Avcin EUROPEAN JOURNAL OF HUMAN GENETICS 26, 918-918, 2018 | | 2018 |
| NLRP3 and MEFV Gene Variants in PFAPA Patients in Slovenia D Perko, M Debeljak, N Toplak, T Avcin JOURNAL OF CLINICAL IMMUNOLOGY 34, S191-S191, 2014 | | 2014 |
| Uporaba molekularnih markerjev za detekcijo povzročiteljev verticilijske uvelosti hmelja (Verticillium albo-atrum in V. dahliae) v tleh D Perko Univerza v Ljubljani, Biotehniška fakulteta, 2011 | | 2011 |
