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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.
Autosomal recessive congenital ichthyoses in the Czech Republic.
Bučková H, Nosková H, Borská R, Réblová K, Pinková B, Zapletalová E, Kopečková L, Horký O, Němečková J, Gaillyová R, Nagy Z, Veselý K, Hermanová M, Stehlíková K, Fajkusová L. Bučková H, et al. Among authors: reblova k. Br J Dermatol. 2016 Feb;174(2):405-7. doi: 10.1111/bjd.13918. Epub 2015 Nov 14. Br J Dermatol. 2016. PMID: 25998749 No abstract available.
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.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: reblova k. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 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.
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Horák O, Burešová M, Kolář S, Španělová K, Jeřábková B, Gaillyová R, Česká K, Réblová K, Šoukalová J, Zídková J, Fajkusová L, Ošlejšková H, Rektor I, Danhofer P. Horák O, et al. Among authors: reblova k. Epilepsy Behav. 2022 Mar;128:108564. doi: 10.1016/j.yebeh.2022.108564. Epub 2022 Jan 19. Epilepsy Behav. 2022. PMID: 35065395
63 results