Hasil Pencarian - Malgorzata Libik

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  1. 1
    Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients

    Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients oleh Guergana Petrova, Nadezhda Yaneva, Jana Hrbková, Malgorzata Libik, Alexey Savov, Milan Macek Jr.

    Diterbitkan 2019-08-01
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  2. 2
    Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

    Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstra... oleh Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous, Leonidas A. Phylactou

    Diterbitkan 2021-10-01
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  3. 3
    The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood

    The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated w... oleh Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudíčková, Karel Krejčí, Jana Reiterová, Eva Jančová, Jana Machová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horáčková, Martina Putzová, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Macek

    Diterbitkan 2023-12-01
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