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Page 1
Malignant hyperthermia in Czechia and Slovakia.
Klincová M, Štěpánková D, Schröderová I, Klabusayová E, Ošťádalová E, Valášková I, Fajkusová L, Zídková J, Gaillyová R, Štourač P. Klincová M, et al. Among authors: valaskova i. Br J Anaesth. 2022 Aug;129(2):e41-e43. doi: 10.1016/j.bja.2022.04.029. Epub 2022 Jun 17. Br J Anaesth. 2022. PMID: 35718563 Free article. No abstract available.
Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress.
Jelinkova S, Fojtik P, Kohutova A, Vilotic A, Marková L, Pesl M, Jurakova T, Kruta M, Vrbsky J, Gaillyova R, Valášková I, Frák I, Lacampagne A, Forte G, Dvorak P, Meli AC, Rotrekl V. Jelinkova S, et al. Among authors: valaskova i. Cells. 2019 Jan 15;8(1):53. doi: 10.3390/cells8010053. Cells. 2019. PMID: 30650618 Free PMC article.
Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Silva IAL, Doušová T, Ramalho S, Centeio R, Clarke LA, Railean V, Botelho HM, Holubová A, Valášková I, Yeh JT, Hwang TC, Farinha CM, Kunzelmann K, Amaral MD. Silva IAL, et al. Among authors: valaskova i. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165905. doi: 10.1016/j.bbadis.2020.165905. Epub 2020 Jul 28. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32730979 Free PMC article.
Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
Synková I, Bébarová M, Andršová I, Chmelikova L, Švecová O, Hošek J, Pásek M, Vít P, Valášková I, Gaillyová R, Navrátil R, Novotný T. Synková I, et al. Among authors: valaskova i. Sci Rep. 2021 Apr 29;11(1):9597. doi: 10.1038/s41598-021-89234-z. Sci Rep. 2021. PMID: 33927328 Free PMC article. No abstract available.
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Szafranski P, Liu Q, Karolak JA, Song X, de Leeuw N, Faas B, Gerychova R, Janku P, Jezova M, Valaskova I, Gibbs KA, Surrey LF, Poisson V, Bérubé D, Oligny LL, Michaud JL, Popek E, Stankiewicz P. Szafranski P, et al. Among authors: valaskova i. Hum Genet. 2019 Dec;138(11-12):1301-1311. doi: 10.1007/s00439-019-02073-x. Epub 2019 Nov 4. Hum Genet. 2019. PMID: 31686214 Free PMC article.
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Among authors: valaskova i. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
14 results