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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.
Doubková M, Staňo Kozubík K, Radová L, Pešová M, Trizuljak J, Pál K, Svobodová K, Réblová K, Svozilová H, Vrzalová Z, Pospíšilová Š, Doubek M. Doubková M, et al. Among authors: reblova k. Hum Genome Var. 2019 Mar 5;6:12. doi: 10.1038/s41439-019-0044-z. eCollection 2019. Hum Genome Var. 2019. PMID: 30854216 Free PMC article.
DNA mutation motifs in the genes associated with inherited diseases.
Růžička M, Kulhánek P, Radová L, Čechová A, Špačková N, Fajkusová L, Réblová K. Růžička M, et al. Among authors: reblova k. PLoS One. 2017 Aug 2;12(8):e0182377. doi: 10.1371/journal.pone.0182377. eCollection 2017. PLoS One. 2017. PMID: 28767725 Free PMC article.
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.
Zaprazna K, Reblova K, Svobodova V, Radova L, Bystry V, Baloun J, Durechova K, Tom N, Loja T, Buresova M, Stranska K, Oltova A, Doubek M, Atchison ML, Trbusek M, Malcikova J, Pospisilova S. Zaprazna K, et al. Among authors: reblova k. Ann Hematol. 2019 Feb;98(2):423-435. doi: 10.1007/s00277-018-3520-5. Epub 2018 Oct 27. Ann Hematol. 2019. PMID: 30368590 Free PMC article.
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.
Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.
Kozubik KS, Radova L, Reblova K, Smida M, Zaliova Kubricanova M, Baloun J, Pesova M, Vrzalova Z, Folber F, Mejstrikova S, Pospisilova S, Doubek M. Kozubik KS, et al. Among authors: reblova k. Platelets. 2021 Aug 18;32(6):838-841. doi: 10.1080/09537104.2020.1802416. Epub 2020 Aug 21. Platelets. 2021. PMID: 32819174
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M, Staňo Kozubík K, Trizuljak J, Vrzalová Z, Radová L, Réblová K, Holbová R, Kurucová T, Svozilová H, Štika J, Blaháková I, Dvořáčková B, Prudková M, Stehlíková O, Šmída M, Křen L, Smejkal P, Pospíšilová Š, Doubek M. Skalníková M, et al. Among authors: reblova k. Int J Mol Sci. 2022 Jan 14;23(2):885. doi: 10.3390/ijms23020885. Int J Mol Sci. 2022. PMID: 35055070 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.
60 results