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Page 1
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 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.
Dubucs C, Caillet A, Frémont F, Delteil L, N'Go V, Neville AJ, Ballardini E, Dolk H, Loane M, Garne E, Khoshnood B, Lelong N, Rissmann A, O'Mahony M, Pierini A, Gatt M, Bergman J, Krawczynski MR, Latos Bielenska A, Echevarría González de Garibay LJ, Cavero-Carbonell C, Addor MC, Tucker D, Jordan S, Den Hond E, Nelen V, Barisic I, Rouget F, Randrianaivo H, Hoareau J, Perthus I, Hurault-Delarue C, Courtade-Saïdi M, Damase-Michel C. Dubucs C, et al. Among authors: krawczynski mr. Birth Defects Res. 2024 Nov;116(11):e2414. doi: 10.1002/bdr2.2414. Birth Defects Res. 2024. PMID: 39582415 Free PMC article.
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E, Beć-Gajowniczek M, Sivitskaya L, Gregorczyk E, Łyszkiewicz P, Szymańczak R, Jędrzejowska M, Wylęgała E, Krawczyński MR, Teper S, Boguszewska-Chachulska A. Matczyńska E, et al. Among authors: krawczynski mr. Biomedicines. 2024 Jun 18;12(6):1355. doi: 10.3390/biomedicines12061355. Biomedicines. 2024. PMID: 38927562 Free PMC article.
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.
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.
59 results