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Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J, Wawrocka A, Kuszel Ł, Pietras P, Leśniczak-Staszak M, Andrusiewicz M, Krawczyński MR, Latos-Bieleńska A, Pawlak M, Grenda R, Materna-Kiryluk A, Oud MM, Szaflarski W. Walczak-Sztulpa J, et al. Among authors: krawczynski mr. Front Mol Biosci. 2023 Dec 12;10:1285790. doi: 10.3389/fmolb.2023.1285790. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161384 Free PMC article.
Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR. Kuchalska K, et al. Among authors: krawczynski mr. Congenit Anom (Kyoto). 2023 Jul;63(4):109-115. doi: 10.1111/cga.12520. Epub 2023 May 16. Congenit Anom (Kyoto). 2023. PMID: 37191119
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Biernacka EK, Osadnik T, Bilińska ZT, Krawczyński M, Latos-Bieleńska A, Łaczmańska I, Miszczak-Knecht M, Płoski R, Ponińska JK, Prejbisz A, Rubiś P, Rudnicka A, Szczałuba K, Szczygieł JA, Własienko P, Wołczenko A, Zienciuk-Krajka A, Ziółkowska L, Gil R. Biernacka EK, et al. Kardiol Pol. 2024 May 7. doi: 10.33963/v.phj.100490. Online ahead of print. Kardiol Pol. 2024. PMID: 38712785 Free article. No abstract available.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: krawczynski mr. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?
Czarnywojtek A, Gut P, Dyrka K, Sowiński J, Sawicka-Gutaj N, Katulska K, Stajgis P, Wykrętowicz M, Moskal J, Kościński J, Pietrończyk K, Graczyk P, Krawczyński MR, Florek E, Szczepanek-Parulska E, Ruchała M, Ferlito A. Czarnywojtek A, et al. Among authors: krawczynski mr. Endokrynol Pol. 2024;75(2):130-139. doi: 10.5603/ep.98240. Epub 2024 Apr 22. Endokrynol Pol. 2024. PMID: 38646982 Free article. Review.
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