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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.
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.
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.
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.
63 results