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Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.
Rydzanicz M, Wróbel M, Pollak A, Gawecki W, Brauze D, Kostrzewska-Poczekaj M, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarzyński H, Szyfter K. Rydzanicz M, et al. Among authors: ploski r. Biochem Biophys Res Commun. 2010 Apr 23;395(1):116-21. doi: 10.1016/j.bbrc.2010.03.149. Epub 2010 Mar 28. Biochem Biophys Res Commun. 2010. PMID: 20353758
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
Inverse association between obesity predisposing FTO genotype and completed suicide.
Chojnicka I, Fudalej S, Walczak A, Wasilewska K, Fudalej M, Stawiński P, Strawa K, Pawlak A, Wojnar M, Krajewski P, Płoski R. Chojnicka I, et al. Among authors: ploski r. PLoS One. 2014 Sep 29;9(9):e108900. doi: 10.1371/journal.pone.0108900. eCollection 2014. PLoS One. 2014. PMID: 25265168 Free PMC 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.
Association between FKBP5 Functional Polymorphisms and Completed Suicide.
Fudalej S, Kopera M, Wołyńczyk-Gmaj D, Fudalej M, Krajewski P, Wasilewska K, Szymański K, Chojnicka I, Podgórska A, Wojnar M, Płoski R. Fudalej S, et al. Among authors: ploski r. Neuropsychobiology. 2015;72(2):126-31. doi: 10.1159/000441659. Epub 2015 Dec 3. Neuropsychobiology. 2015. PMID: 26630184
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: ploski r. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
475 results