Works by Bertok, Sara

Results: 25
    1
    2
    3
    4

    Genetic variant of C1GaIT1 contributes to the susceptibility to IgA nephropathy.

    Published in:
    Journal of Nephrology (JNonline), 2009, v. 22, n. 1, p. 152
    By:
    • Pirulli, Doroti;
    • Crovella, Sergio;
    • Ulivi, Sheila;
    • Zadro, Cristina;
    • Bertok, Sara;
    • Rendine, Sabina;
    • Scolari, Francesco;
    • Foramitti, Marina;
    • Ravani, Pietro;
    • Roccatello, Dario;
    • Savoldi, Silvana;
    • Cerullo, Giuseppina;
    • Lanzilotta, Salvatore Giovanni;
    • Bisceglia, Luigi;
    • Zelante, Leopoldo;
    • Floege, Jurgen;
    • Alexopoulos, Epstathios;
    • Kirmizis, Dimitrios;
    • Ghiggeri, Gian Marco;
    • Frascà, Giovanni
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12

    Antimongoloid as a pejorative term.

    Published in:
    2014
    By:
    • Masukume, Gwinyai;
    • Nosan, Gregor;
    • Bertok, Sara;
    • Vesel, Samo;
    • Yntema, Helger G.;
    • Paro-Panjan, Darja
    Publication type:
    Letter to the Editor
    13
    14

    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 Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 9, doi. 10.3390/ijns11010009
    By:
    • Drole Torkar, Ana;
    • Klinc, Ana;
    • Remec, Ziga Iztok;
    • Rankovic, Branislava;
    • Bartolj, Klara;
    • Bertok, Sara;
    • Colja, Sara;
    • Cuk, Vanja;
    • Debeljak, Marusa;
    • Kozjek, Eva;
    • Repic Lampret, Barbka;
    • Mlinaric, Matej;
    • Mohar Hajnsek, Tinka;
    • Perko, Daša;
    • Stajer, Katarina;
    • Tesovnik, Tine;
    • Trampuz, Domen;
    • Ulaga, Blanka;
    • Kovac, Jernej;
    • Battelino, Tadej
    Publication type:
    Article
    15
    16
    17

    Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Published in:
    Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134133
    By:
    • Saho, Robert;
    • Dolzan, Vita;
    • Tansek, Mojca Zerjav;
    • Pastorakova, Andrea;
    • Petrovic, Robert;
    • Knapkova, Maria;
    • Podkrajsek, Katarina Trebusak;
    • Omladic, Jasna Suput;
    • Bertok, Sara;
    • Stefanija, Magdalena Avbelj;
    • Kotnik, Primoz;
    • Battelino, Tadej;
    • Pribilincova, Zuzana;
    • Groselj, Urh
    Publication type:
    Article
    18
    19
    20

    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
    21

    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
    22
    23
    24
    25