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Year Number of Results
1998 1
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2003 1
2005 3
2006 6
2007 4
2008 1
2010 3
2011 5
2012 4
2013 7
2014 8
2015 3
2016 3
2017 1
2018 2
2019 4
2020 3
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2025 0

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61 results

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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Among authors: stembalska a. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R. Podralska MJ, et al. Among authors: stembalska a. Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30. Mol Genet Genomic Med. 2014. PMID: 25614872 Free PMC article.
Short stature in genetic syndromes: Selected issues.
Łaczmańska I, Kuliczkowska-Płaksej J, Stembalska A. Łaczmańska I, et al. Among authors: stembalska a. Adv Clin Exp Med. 2018 Mar;27(3):409-414. doi: 10.17219/acem/67051. Adv Clin Exp Med. 2018. PMID: 29558022 Free article. Review.
A personalised approach to prostate cancer screening based on genotyping of risk founder alleles.
Cybulski C, Wokołorczyk D, Kluźniak W, Kashyap A, Gołąb A, Słojewski M, Sikorski A, Puszyński M, Soczawa M, Borkowski T, Borkowski A, Antczak A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Domagała P, Piotrowski K, Menkiszak J, Krzystolik K, Gronwald J, Jakubowska A, Górski B, Dębniak T, Masojć B, Huzarski T, Muir KR, Lophatananon A, Lubiński J, Narod SA; Polish Hereditary Prostate Cancer Consortium. Cybulski C, et al. Br J Cancer. 2013 Jun 25;108(12):2601-9. doi: 10.1038/bjc.2013.261. Epub 2013 May 30. Br J Cancer. 2013. PMID: 23722471 Free PMC article.
The presence of prostate cancer at biopsy is predicted by a number of genetic variants.
Kashyap A, Kluźniak W, Wokołorczyk D, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Świtała J, Borkowski T, Borkowski A, Antczak A, Wojnar Ł, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała P, Piotrowski K, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Górski B, Masojć B, van de Wetering T, Menkiszak J, Akbari MR, Lubiński J, Narod SA, Cybulski C; Polish Hereditary Prostate Cancer Consortium. Kashyap A, et al. Int J Cancer. 2014 Mar 1;134(5):1139-46. doi: 10.1002/ijc.28447. Epub 2013 Sep 16. Int J Cancer. 2014. PMID: 24037955
61 results