Works matching AU Bellová, Jana


Results: 9
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    A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3494, doi. 10.1002/ajmg.a.62474
    By:
    • Ziburová, Jana;
    • Nemčovič, Marek;
    • Šesták, Sergej;
    • Bellová, Jana;
    • Pakanová, Zuzana;
    • Siváková, Barbara;
    • Šalingová, Anna;
    • Šebová, Claudia;
    • Ostrožlíková, Mária;
    • Lekka, Dimitra‐Evanthia;
    • Brucknerová, Jana;
    • Brucknerová, Ingrid;
    • Skokňová, Martina;
    • Mc Cullough, Alexandra;
    • Hrčková, Gabriela;
    • Hlavatá, Anna;
    • Bzdúch, Vladimír;
    • Mucha, Ján;
    • Baráth, Peter
    Publication type:
    Article
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