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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: kostyk e. 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.
[Genetic background of retinoblastoma].
Kostyk E, Pietrzyk JJ. Kostyk E, et al. Med Wieku Rozwoj. 1999 Jan-Mar;3(1):33-40. Med Wieku Rozwoj. 1999. PMID: 10910636 Review. Polish.
Unaffected patients with a homozygous absence of the SMN1 gene.
Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I. Jedrzejowska M, et al. Among authors: kostyk e. Eur J Hum Genet. 2008 Aug;16(8):930-4. doi: 10.1038/ejhg.2008.41. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337729
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