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Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics

  1. TitleComprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics
    Author Šoltýsová Andrea 1980- SAVBIOMED ; SAVVIR ; SAVUKTRA - Biomedicínske centrum SAV
    Co-authors Tóthová Tarová Eva

    Ficek Andrej

    Baldovic M.

    Poláková Helena SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV

    Kayserová H.

    Kádaši Ľudevít 1952- SAVBIOMED ; SAVUKTRA ; SAVVIR - Biomedicínske centrum SAV    ORCID

    Source document Clinical Respiratory Journa. Vol. 12, no. 3 (2018) p. 1197-1206
    Languageeng - English
    Document kindrozpis článkov z periodík (rbx)
    CitationsALOUI, Chaker - CHAKROUN, Tahar - GRANADOS, Viviana - JEMNI-YACOUB, Saloua - FAGAN, Jocelyne - KHELIF, Abderrahim - KAHLOUL, Najoua - HAMMAMI, Sabeur - CHKIOUA, Latifa - BARLIER, Celine - COGNASSE, Fabrice - LARADI, Sandrine - GARRAUD, Olivier. Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population. In BLOOD COAGULATION & FIBRINOLYSIS. ISSN 0957-5235, 2018, vol. 29, no. 8, pp. 689-696.
    CategoryADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2018
    Registered inWOS
    Registered inSCOPUS
    DOI 10.1111/crj.12651
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    N
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    201820172.211Q30.634Q2
Number of the records: 1  

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