Works matching AU Sikonja, Jaka

Results: 12
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    Towards Achieving Equity and Innovation in Newborn Screening across Europe.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 31, doi. 10.3390/ijns8020031
    By:
    • Sikonja, Jaka;
    • Groselj, Urh;
    • Scarpa, Maurizio;
    • la Marca, Giancarlo;
    • Cheillan, David;
    • Kölker, Stefan;
    • Zetterström, Rolf H.;
    • Kožich, Viktor;
    • Le Cam, Yann;
    • Gumus, Gulcin;
    • Bottarelli, Valentina;
    • van der Burg, Mirjam;
    • Dekkers, Eugenie;
    • Battelino, Tadej;
    • Prevot, Johan;
    • Schielen, Peter C. J. I.;
    • Bonham, James R.
    Publication type:
    Article
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    Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.

    Published in:
    Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1387419
    By:
    • Ain, Quratul;
    • Cevc, Matija;
    • Marusic, Tatiana;
    • Sikonja, Jaka;
    • Sadiq, Fouzia;
    • Sustar, Ursa;
    • Mlinaric, Matej;
    • Kovac, Jernej;
    • Batool, Hijab;
    • Khan, Mohammad Iqbal;
    • Podkrajsek, Katarina Trebusak;
    • Bizjan, Barbara Jenko;
    • Battelino, Tadej;
    • Fras, Zlatko;
    • Ajmal, Muhammad;
    • Groselj, Urh
    Publication type:
    Article
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    Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

    Published in:
    Genes, 2022, v. 13, n. 5, p. 717, doi. 10.3390/genes13050717
    By:
    • Krasovec, Tjasa;
    • Sikonja, Jaka;
    • Zerjav Tansek, Mojca;
    • Debeljak, Marusa;
    • Ilovar, Sasa;
    • Trebusak Podkrajsek, Katarina;
    • Bertok, Sara;
    • Tesovnik, Tine;
    • Kovac, Jernej;
    • Suput Omladic, Jasna;
    • Hartmann, Michaela F.;
    • Wudy, Stefan A.;
    • Avbelj Stefanija, Magdalena;
    • Battelino, Tadej;
    • Kotnik, Primoz;
    • Groselj, Urh
    Publication type:
    Article
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    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
    By:
    • Kafol, Jan;
    • Gnidovec Strazisar, Barbara;
    • Drole Torkar, Ana;
    • Homan, Matjaz;
    • Bertok, Sara;
    • Mlinaric, Matej;
    • Sikonja, Jaka;
    • Kovač, Jernej;
    • Perkovic Benedik, Mirjana;
    • Kersnik Levart, Tanja;
    • Zerjav Tansek, Mojca;
    • Praprotnik, Marina;
    • Battelino, Tadej;
    • Debeljak, Maruša;
    • Groselj, Urh
    Publication type:
    Article
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