Works matching AU Zerjav Tansek, Mojca


Results: 25
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    Phenylketonuria screening and management in southeastern Europe -- survey results from 11 countries.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0283-0
    By:
    • Tansek, Mojca Zerjav;
    • Groselj, Urh;
    • Angelkova, Natalija;
    • Anton, Dana;
    • Baric, Ivo;
    • Djordjevic, Maja;
    • Grimci, Lindita;
    • Ivanova, Maria;
    • Kadam, Adil;
    • Kotori, Vjosa;
    • Maksic, Hajrija;
    • Marginean, Oana;
    • Margineanu, Otilia;
    • Miljanovic, Olivera;
    • Moldovanu, Florentina;
    • Muresan, Mariana;
    • Nanu, Michaela;
    • Samardzic, Mira;
    • Sarnavka, Vladimir;
    • Savov, Aleksei
    Publication type:
    Article
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    Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2487, doi. 10.3390/ijms24032487
    By:
    • Perko, Dasa;
    • Groselj, Urh;
    • Cuk, Vanja;
    • Iztok Remec, Ziga;
    • Zerjav Tansek, Mojca;
    • Drole Torkar, Ana;
    • Krhin, Blaz;
    • Bicek, Ajda;
    • Oblak, Adrijana;
    • Battelino, Tadej;
    • Repic Lampret, Barbka
    Publication type:
    Article
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    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
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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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