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484 results

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Page 1
Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling.
Jozwiak J, Sahin M, Jozwiak S, Kotulska K, Ploski R, Szperl M, Wlodarski PK. Jozwiak J, et al. Among authors: ploski r. Int J Cardiol. 2009 Feb 6;132(1):145-7. doi: 10.1016/j.ijcard.2007.07.152. Epub 2007 Nov 26. Int J Cardiol. 2009. PMID: 18037514
The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W. Rydzanicz M, et al. Among authors: ploski r. Mol Genet Metab. 2011 Sep-Oct;104(1-2):153-9. doi: 10.1016/j.ymgme.2011.05.004. Epub 2011 May 13. Mol Genet Metab. 2011. PMID: 21621438
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
Franaszczyk M, Bilinska ZT, Sobieszczańska-Małek M, Michalak E, Sleszycka J, Sioma A, Małek ŁA, Kaczmarska D, Walczak E, Włodarski P, Hutnik Ł, Milanowska B, Dzielinska Z, Religa G, Grzybowski J, Zieliński T, Ploski R. Franaszczyk M, et al. Among authors: ploski r. J Transl Med. 2014 Jul 9;12:192. doi: 10.1186/1479-5876-12-192. J Transl Med. 2014. PMID: 25008357 Free PMC article.
Association of 49245A>G (rs868) polymorphism in the 3'UTR of donor TGFBR1 gene with course of hepatitis C following orthotopic liver transplantation.
Ziarkiewicz-Wróblewska B, Sajjad E, Ciszek M, Hutnik Ł, Łukasik D, Fedorowicz M, Wróblewski T, Patkowski W, Pączek L, Płoski R, Włodarski P, Malejczyk J. Ziarkiewicz-Wróblewska B, et al. Among authors: ploski r. Ann Transplant. 2014 Dec 12;19:643-51. doi: 10.12659/AOT.891119. Ann Transplant. 2014. PMID: 25502482 Free article.
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R. Truszkowska GT, et al. Among authors: ploski r. BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0. BMC Med Genet. 2015. PMID: 25928149 Free PMC article.
A rare mutation in a rare tumor--SMARCB1-deficient malignant glomus tumor.
Dabek B, Kram A, Kubrak J, Kurzawski M, Wojcik P, Machnicki MM, Stoklosa T, Rydzanicz M, Ploski R, Debiec-Rychter M. Dabek B, et al. Among authors: ploski r. Genes Chromosomes Cancer. 2016 Jan;55(1):107-9. doi: 10.1002/gcc.22296. Epub 2015 Sep 22. Genes Chromosomes Cancer. 2016. PMID: 26391213 No abstract available.
484 results