Found: 2

Select item for more details and to access through your institution.

  • Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

    Published in:
    PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
    By:
    • Neřoldová, Magdaléna;
    • Ciara, Elżbieta;
    • Slatinská, Janka;
    • Fraňková, Soňa;
    • Lišková, Petra;
    • Kotalová, Radana;
    • Globinovská, Janka;
    • Šafaříková, Markéta;
    • Pfeiferová, Lucie;
    • Zůnová, Hana;
    • Mrázová, Lenka;
    • Stránecký, Viktor;
    • Vrbacká, Alena;
    • Fabián, Ondřej;
    • Sticová, Eva;
    • Skanderová, Daniela;
    • Šperl, Jan;
    • Kalousová, Marta;
    • Zima, Tomáš;
    • Macek, Milan
    Publication type:
    Article

  • Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.

    Published in:
    2021
    By:
    • Vylet'al, Petr;
    • Kidd, Kendrah;
    • Ainsworth, Hannah C.;
    • Springer, Drahomíra;
    • Vrbacká, Alena;
    • Přistoupilová, Anna;
    • Hughey, Rebecca P.;
    • Alper, Seth L.;
    • Lennon, Niall;
    • Harrison, Steven;
    • Harden, Maegan;
    • Robins, Victoria;
    • Taylor, Abbigail;
    • Martin, Lauren;
    • Howard, Katrice;
    • Bitar, Ibrahim;
    • Langefeld, Carl D.;
    • Barešová, Veronika;
    • Hartmannová, Hana;
    • Hodaňová, Kateřina
    Publication type:
    journal article