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Did you mean jana padova (12 results)?
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J. Kanderova V, et al. Among authors: paderova j. J Allergy Clin Immunol. 2022 Apr;149(4):1464-1472.e3. doi: 10.1016/j.jaci.2021.07.046. Epub 2021 Sep 15. J Allergy Clin Immunol. 2022. PMID: 34536415
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: paderova j. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345
Plk4 is required for cytokinesis and maintenance of chromosomal stability.
Rosario CO, Ko MA, Haffani YZ, Gladdy RA, Paderova J, Pollett A, Squire JA, Dennis JW, Swallow CJ. Rosario CO, et al. Among authors: paderova j. Proc Natl Acad Sci U S A. 2010 Apr 13;107(15):6888-93. doi: 10.1073/pnas.0910941107. Epub 2010 Mar 26. Proc Natl Acad Sci U S A. 2010. PMID: 20348415 Free PMC article.
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Paderova J, et al. Eur J Med Genet. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307790
16 results