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Page 1
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K, Osipowicz K, Woźniak K, Sawicka J, Mika A, Kutkowska-Kaźmierczak A, Niepokój K, Sobczyńska-Tomaszewska A, Wawrzycki B, Pietrzak A, Śmigiel R, Wojtaś B, Gielniewski B, Szabelska-Beresewicz A, Zyprych-Walczak J, Rygiel AM, Domaszewicz A, Braun-Walicka N, Grabarczyk A, Rzońca-Niewczas S, Lidia R, Dawidziuk M, Domański D, Gambin T, Jackiewicz M, Duk K, Dorożko B, Szczygielski O, Krześniak N, Noszczyk BH, Obersztyn E, Wierzba J, Barczyk A, Castaneda J, Eckersdorf-Mastalerz A, Jakubiuk-Tomaszuk A, Własienko P, Jaszczuk I, Jezela-Stanek A, Klapecki J, van Geel M, Kowalewski C, Bal J, Gostyński A. Wertheim-Tysarowska K, et al. Among authors: szczygielski o. Orphanet J Rare Dis. 2024 Nov 5;19(1):413. doi: 10.1186/s13023-024-03395-4. Orphanet J Rare Dis. 2024. PMID: 39501396 Free PMC article.
Neurocutaneous melanosis in children with giant congenital melanocytic nevi.
Bekiesinska-Figatowska M, Szczygielski O, Boczar M, Madzik J, Klepacka T, Michalak E, Romaniuk-Doroszewska A, Uliasz M, Peczkowski P, Sawicka E. Bekiesinska-Figatowska M, et al. Among authors: szczygielski o. Clin Imaging. 2014 Mar-Apr;38(2):79-84. doi: 10.1016/j.clinimag.2013.10.001. Epub 2013 Oct 16. Clin Imaging. 2014. PMID: 24239041