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Page 1
Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
Krzystolik K, Jakubowska A, Gronwald J, Krawczyński MR, Drobek-Słowik M, Sagan L, Cyryłowski L, Lubiński W, Lubiński J, Cybulski C. Krzystolik K, et al. Among authors: cyrylowski l. Hered Cancer Clin Pract. 2014 Jun 18;12(1):16. doi: 10.1186/1897-4287-12-16. eCollection 2014. Hered Cancer Clin Pract. 2014. PMID: 25093046 Free PMC article.
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski C, Krzystolik K, Murgia A, Górski B, Debniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuza J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyryłowski L, Fiszer-Maliszewska Ł, Gronwald J, Tołoczko-Grabarek A, Zajaczek S, Lubiński J. Cybulski C, et al. Among authors: cyrylowski l. J Med Genet. 2002 Jul;39(7):E38. doi: 10.1136/jmg.39.7.e38. J Med Genet. 2002. PMID: 12114495 Free PMC article. No abstract available.
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency.
Giżewska M, Hnatyszyn G, Sagan L, Cyryłowski L, Zekanowski C, Modrzejewska M, Nestorowicz B, Kubalska J, Walczak M. Giżewska M, et al. Among authors: cyrylowski l. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S83-9. doi: 10.1007/s10545-009-1073-4. Epub 2009 Mar 30. J Inherit Metab Dis. 2009. PMID: 19322676
Noncystic white matter injury--a case report.
Hnatyszyn G, Cyryłowski L, Gizewska M, Kabacińska A, Konefał H, Jaroszewicz-Zrebiec D. Hnatyszyn G, et al. Among authors: cyrylowski l. Turk J Pediatr. 2007 Oct-Dec;49(4):426-30. Turk J Pediatr. 2007. PMID: 18246747
[Diagnostic problems of rare cerebellopontine angle tumors].
Kabacińska A, Dabrowska A, Tarnowska C, Cyryłowski L. Kabacińska A, et al. Among authors: cyrylowski l. Otolaryngol Pol. 2007;61(2):184-7. doi: 10.1016/S0030-6657(07)70410-9. Otolaryngol Pol. 2007. PMID: 17668807 Polish.
15 results