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Records found: 3  
Your query: Author Sysno = "^sllk_un_auth 0057042^"

  1. 1.APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease

    TitleAPOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease
    Author infoZuzana Pos ... [et al.]
    Co-authors Pos Zuzana
    Radvánszky Ján
    Penesová Adela
    Hekel Rastislav
    Szemes Tomáš
    Zaťková Andrea
    NoteBibliogr. odkazy. - Res. angl.
    Sign.C 526
    Source Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248. - Bratislava : AEPress , 2023 . - Vol. 124, no. 5 (2023), s. 351-355  : ilustr., tab.
    MeSH Subject hypolipoproteinémie : genetika
    sekvenovanie exómové
    gény
    polymorfizmus genetický
    ateroskleróza
    Subj. Headings hypolipoproteinémia familiárna * variant génu APOC3 * variant génu ABCA1 * kazuistika
    LanguageEnglish
    CountrySlovak Republic
    Document kindRozpis článkov z periodík
    DatabaseARTICLES
    article

    article

  2. 2.Copy Number Variation: Methods and Clinical Applications

    Info** Dokument nie je vo fonde knižnice **
    TitleCopy Number Variation: Methods and Clinical Applications
    Author infoPös O. ... [et al.]
    Co-authors Pös Ondrej
    Radvánszky Ján
    Styk Jakub
    Pos Zuzana
    Kajsík Michal
    NotePopis urobený z citácie
    Source Applied Sciences . - Vol. 11, no. 2 (2021), s. 819
    LanguageEnglish
    CountryUnited States of America
    Document kindRozpis článkov z periodík
    DatabaseARTICLES
    article

    article

  3. 3.Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children

    TitleMolecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
    Author infoRadvanska E. ... [et al.]
    Co-authors Radvanská Eva
    Pos Zuzana
    Zaťková Andrea
    Hýblová Michaela
    Bauer František 1950-
    Szemes Tomáš
    Kádaši Ľudevít 1952-
    Radvánszky Ján
    NoteBibliogr. odkazy. - Res. angl.
    Sign.C 526
    Source Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248. - Bratislava : AEPress , 2022 . - Vol. 123, no. 8 (2022), s. 568-572  : ilustr., obr., tab.
    MeSH Subject choroby neurodegeneratívne
    testovanie genetické
    Rómovia
    Subj. Headings hypoplázia pontocerebelárna typ 1 * gén EXOSC3 * c.92G>C * p.(Gly31Ala)
    LanguageEnglish
    CountrySlovak Republic
    Document kindRozpis článkov z periodík
    DatabaseARTICLES
    article

    article



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