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Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
Železnik M, Soltirovska Šalamon A, Debeljak M, Goropevšek A, Šuštar N, Ključevšek D, Ihan A, Avčin T. Železnik M, et al. Among authors: debeljak m. Front Immunol. 2023 Jan 4;13:1033513. doi: 10.3389/fimmu.2022.1033513. eCollection 2022. Front Immunol. 2023. PMID: 36685504 Free PMC article.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: debeljak m. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Molk N, Bitenc M, Urlep D, Zerjav Tansek M, Bertok S, Trebusak Podkrajsek K, Sustar U, Kovac J, Battelino T, Debeljak M, Groselj U. Molk N, et al. Among authors: debeljak m. Front Med (Lausanne). 2023 Jun 13;10:1106441. doi: 10.3389/fmed.2023.1106441. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37384046 Free PMC article.
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Štajer K, Kovač N, Šikonja J, Mlinarič M, Bertok S, Brecelj J, Debeljak M, Kovač J, Markelj G, Neubauer D, Rus R, Žerjav Tanšek M, Drole Torkar A, Zver A, Battelino T, Jiménez Torres R, Grošelj U. Štajer K, et al. Among authors: debeljak m. Mol Genet Metab Rep. 2023 Jun 19;36:100986. doi: 10.1016/j.ymgmr.2023.100986. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670898 Free PMC article.
SARS-CoV-2 molecular epidemiology in Slovenia, January to September 2021.
Janezic S, Mahnic A, Kuhar U, Kovač J, Jenko Bizjan B, Koritnik T, Tesovnik T, Šket R, Krapež U, Slavec B, Malovrh T, Battelino T, Rupnik M, Zohar Cretnik T; NLZOH COVID-19 team; CISLD NGS team; Members of the NLZOH COVID-19 team Members of the CISLD NGS team, UMC Ljubljana. Janezic S, et al. Euro Surveill. 2023 Feb;28(8):2200451. doi: 10.2807/1560-7917.ES.2023.28.8.2200451. Euro Surveill. 2023. PMID: 36820641 Free PMC article.
118 results