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Page 1
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052.
Brain. 2022.
PMID: 35148383
Free PMC article.
Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.
Szabadosova V, Boronova I, Ferenc P, Tothova I, Bernasovska J, Zigova M, Kmec J, Bernasovsky I.
Szabadosova V, et al. Among authors: tothova i.
J Clin Lab Anal. 2018 Feb;32(2):e22254. doi: 10.1002/jcla.22254. Epub 2017 Jun 8.
J Clin Lab Anal. 2018.
PMID: 28594148
Free PMC article.
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The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Anteneová N, Kelifová S, Kolářová H, Vondráčková A, Tóthová I, Lišková P, Magner M, Zámečník J, Hansíková H, Zeman J, Tesařová M, Honzík T.
Anteneová N, et al. Among authors: tothova i.
Brain Sci. 2020 Oct 22;10(11):766. doi: 10.3390/brainsci10110766.
Brain Sci. 2020.
PMID: 33105723
Free PMC article.
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Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Priganc M, Zigová M, Boroňová I, Bernasovská J, Dojčáková D, Szabadosová V, Mydlárová Blaščáková M, Tóthová I, Kmec J, Bernasovský I.
Priganc M, et al. Among authors: tothova i.
J Clin Lab Anal. 2017 Mar;31(2):e22037. doi: 10.1002/jcla.22037. Epub 2016 Aug 24.
J Clin Lab Anal. 2017.
PMID: 27554632
Free PMC article.
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Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Klar J, Raykova D, Gustafson E, Tóthová I, Ameur A, Wanders A, Dahl N.
Klar J, et al. Among authors: tothova i.
Eur J Hum Genet. 2015 Dec;23(12):1679-83. doi: 10.1038/ejhg.2015.49. Epub 2015 Mar 18.
Eur J Hum Genet. 2015.
PMID: 25782675
Free PMC article.
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Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.
Gabrikova D, Mistrik M, Bernasovska J, Bozikova A, Behulova R, Tothova I, Macekova S.
Gabrikova D, et al. Among authors: tothova i.
J Appl Genet. 2013 Nov;54(4):455-60. doi: 10.1007/s13353-013-0168-7. Epub 2013 Aug 31.
J Appl Genet. 2013.
PMID: 23996628
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