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215 results

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Page 1
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: slomski r. 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.
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G, Suchy J, Kładny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawień A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubiński J. Kurzawski G, et al. Among authors: slomski r. J Med Genet. 2002 Oct;39(10):E65. doi: 10.1136/jmg.39.10.e65. J Med Genet. 2002. PMID: 12362047 Free PMC article. No abstract available.
Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis.
Plawski A, Lubiński J, Banasiewicz T, Paszkowski J, Lipinski D, Strembalska A, Kurzawski G, Byrski T, Zajaczek S, Hodorowicz-Zaniewska D, Gach T, Brozek I, Nowakowska D, Czkwaniec E, Krokowicz P, Drews M, Zeyland J, Juzwa W, Słomski R. Plawski A, et al. Among authors: slomski r. J Med Genet. 2004 Jan;41(1):e11. doi: 10.1136/jmg.2003.010215. J Med Genet. 2004. PMID: 14729851 Free PMC article. No abstract available.
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J. Kurzawski G, et al. Among authors: slomski r. Clin Genet. 2006 Jan;69(1):40-7. doi: 10.1111/j.1399-0004.2006.00550.x. Clin Genet. 2006. PMID: 16451135
Thyroid cancer in two siblings with FAP syndrome and APC mutation.
Brozek I, Plawski A, Podralska M, Kanka C, Slomski R, Limon J. Brozek I, et al. Among authors: slomski r. Int J Colorectal Dis. 2008 Mar;23(3):331-2. doi: 10.1007/s00384-007-0365-0. Epub 2007 Jul 31. Int J Colorectal Dis. 2008. PMID: 17665205 No abstract available.
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.
Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A. Wozniak A, et al. Among authors: slomski r. BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88. BMC Pediatr. 2010. PMID: 21134246 Free PMC article.
215 results