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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.
Kanderova V, Grombirikova H, Zentsova I, Reblova K, Klocperk A, Fejtkova M, Bloomfield M, Ravcukova B, Kalina T, Freiberger T, Sediva A. Kanderova V, et al. Among authors: reblova k. Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18. Haematologica. 2019. PMID: 30337362 Free PMC article. No abstract available.
Bending of DNA duplexes with mutation motifs.
Růžička M, Souček P, Kulhánek P, Radová L, Fajkusová L, Réblová K. Růžička M, et al. Among authors: reblova k. DNA Res. 2019 Aug 1;26(4):341-352. doi: 10.1093/dnares/dsz013. DNA Res. 2019. PMID: 31230075 Free PMC article.
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D, Zídková J, Voháňka S, Mazanec R, Mušová Z, Vondráček P, Mrázová L, Kraus J, Réblová K, Fajkusová L. Skálová D, et al. Among authors: reblova k. PLoS One. 2013 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013. PLoS One. 2013. PMID: 24349310 Free PMC article.
63 results