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Page 1
The COL7A1 mutation database.
Wertheim-Tysarowska K, Sobczyńska-Tomaszewska A, Kowalewski C, Skroński M, Swięćkowski G, Kutkowska-Kaźmierczak A, Woźniak K, Bal J. Wertheim-Tysarowska K, et al. Hum Mutat. 2012 Feb;33(2):327-31. doi: 10.1002/humu.21651. Epub 2011 Dec 20. Hum Mutat. 2012. PMID: 22058051
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
Valari M, Theodoraki M, Loukas I, Gkantseva-Patsoura S, Karavana G, Falaina V, Lykopoulou L, Pons R, Athanasiou I, Wertheim-Tysarowska K, Kanaka-Gantenbein C, Kiritsi D. Valari M, et al. Among authors: wertheim tysarowska k. Acta Derm Venereol. 2019 Dec 1;99(13):1309-1310. doi: 10.2340/00015555-3317. Acta Derm Venereol. 2019. PMID: 31513275 Free article. Review. No abstract available.
Diagnosis and treatment of exocrine pancreatic insufficiency in chronic pancreatitis: An international expert survey and case vignette study.
de Rijk FEM, van Veldhuisen CL, Besselink MG, van Hooft JE, van Santvoort HC, van Geenen EJM, Hegyi P, Löhr JM, Dominguez-Munoz JE, de Jonge PJF, Bruno MJ, Verdonk RC; Dutch Pancreatitis Study Group. de Rijk FEM, et al. Pancreatology. 2022 May;22(4):457-465. doi: 10.1016/j.pan.2022.03.013. Epub 2022 Mar 16. Pancreatology. 2022. PMID: 35346599 Free article.
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A, Bauer A, Wertheim-Tysarowska K, Bal J, Rygiel AM, Sykut-Cegielska J. Jezela-Stanek A, et al. Among authors: wertheim tysarowska k. Orphanet J Rare Dis. 2021 May 24;16(1):239. doi: 10.1186/s13023-021-01869-3. Orphanet J Rare Dis. 2021. PMID: 34030713 Free PMC article.
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.
Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I, Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker PC, Wertheim-Tysarowska K, Zambruno G. Has C, et al. Among authors: wertheim tysarowska k. Br J Dermatol. 2020 Mar;182(3):574-592. doi: 10.1111/bjd.18128. Epub 2019 Aug 9. Br J Dermatol. 2020. PMID: 31090061 Free PMC article.
52 results