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An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D. Lisyová J, et al. Among authors: jungova p. BMC Med Genet. 2018 Apr 20;19(1):64. doi: 10.1186/s12881-018-0566-0. BMC Med Genet. 2018. PMID: 29678161 Free PMC article.
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.
Juhosová M, Chandoga J, Cisárik F, Dallemule S, Ďurina P, Jarásková D, Jungová P, Kantarská D, Kvasnicová M, Mistrík M, Pastoráková A, Petrovič R, Valachová A, Zelinková H, Barošová J, Böhmer D, Štofko J. Juhosová M, et al. Among authors: jungova p. Neurogenetics. 2023 Jan;24(1):1-16. doi: 10.1007/s10048-022-00704-6. Epub 2022 Nov 19. Neurogenetics. 2023. PMID: 36401683
New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.
Ondrejkovičová M, Dražilová S, Drakulová M, Siles JL, Zemjarová Mezenská R, Jungová P, Fabián M, Rychlý B, Žigrai M. Ondrejkovičová M, et al. Among authors: jungova p. BMC Gastroenterol. 2020 Apr 7;20(1):95. doi: 10.1186/s12876-020-01237-8. BMC Gastroenterol. 2020. PMID: 32264837 Free PMC article.
13 results