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Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jabłónska J, Rydzanicz M, Stawiński P, Ciara E, Lipska-Ziętkiewicz BS, Khan MI, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: kocyla karczmarewicz b. Mol Vis. 2021 Jul 16;27:457-465. eCollection 2021. Mol Vis. 2021. PMID: 34321860 Free PMC article.
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: kocyla karczmarewicz b. Genes (Basel). 2019 Nov 21;10(12):959. doi: 10.3390/genes10120959. Genes (Basel). 2019. PMID: 31766579 Free PMC article.
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH. Walczak-Sztulpa J, et al. Among authors: kocyla karczmarewicz b. Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23. Am J Med Genet A. 2017. PMID: 28332779
[Ocular findings in Nijmegen breakage syndrome].
Grałek M, Chrzanowska KH, Kanigowska K, Kocyła-Karczmarewicz B. Grałek M, et al. Among authors: kocyla karczmarewicz b. Klin Oczna. 2011;113(4-6):153-5. Klin Oczna. 2011. PMID: 21913446 Polish.
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.
Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: kocyla karczmarewicz b. JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 2. JIMD Rep. 2016. PMID: 26427993 Free PMC article.
Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K. Czarny-Ratajczak M, et al. Among authors: kocyla karczmarewicz b. Am J Med Genet A. 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016. Am J Med Genet A. 2009. PMID: 19764033
[Congenital stationary night blindness].
Kocyła-Karczmarewicz B, Grałek M, Juszko J, Trzebicka A, Sarti G. Kocyła-Karczmarewicz B, et al. Klin Oczna. 2004;106(3 Suppl):509-11. Klin Oczna. 2004. PMID: 15636252 Polish.
13 results