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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 2
1968 1
1969 1
1970 1
1971 3
1973 1
1974 2
1976 2
1977 7
1978 5
1979 8
1980 3
1981 2
1985 1
1986 2
1987 4
1988 4
1989 3
1991 2
1992 1
1993 2
1994 1
1995 3
1996 1
1997 1
1999 4
2000 5
2001 2
2002 3
2003 4
2004 2
2005 3
2006 6
2007 3
2008 1
2009 2
2010 2
2011 5
2012 5
2013 4
2014 4
2015 7
2016 4
2017 4
2018 6
2019 4
2020 7
2021 5
2022 6
2023 12
2024 0

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165 results

Results by year

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Page 1
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: pilch j. 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.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: pilch j. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Emicizumab prophylaxis in patients with acquired haemophilia A (GTH-AHA-EMI): an open-label, single-arm, multicentre, phase 2 study.
Tiede A, Hart C, Knöbl P, Greil R, Oldenburg J, Sachs UJ, Miesbach W, Pfrepper C, Trautmann-Grill K, Holstein K, Pilch J, Möhnle P, Schindler C, Weigt C, Schipp D, May M, Dobbelstein C, Pelzer FJ, Werwitzke S, Klamroth R. Tiede A, et al. Among authors: pilch j. Lancet Haematol. 2023 Nov;10(11):e913-e921. doi: 10.1016/S2352-3026(23)00280-6. Epub 2023 Oct 16. Lancet Haematol. 2023. PMID: 37858328 Clinical Trial.
Friedreich's ataxia.
Pilch J, Jamroz E, Marszał E. Pilch J, et al. J Child Neurol. 2002 May;17(5):315-9. doi: 10.1177/088307380201700501. J Child Neurol. 2002. PMID: 12150575 Review.
Activation of the Acute-Phase Response in Hemophilia.
Knowles LM, Wolter C, Menger MD, Laschke MW, Beyer L, Grün U, Eichler H, Pilch J. Knowles LM, et al. Among authors: pilch j. Thromb Haemost. 2023 Sep;123(9):867-879. doi: 10.1055/a-2071-0477. Epub 2023 Apr 10. Thromb Haemost. 2023. PMID: 37037212 Free PMC article.
Macrophage Polarization is Deregulated in Haemophilia.
Knowles LM, Kagiri D, Bernard M, Schwarz EC, Eichler H, Pilch J. Knowles LM, et al. Among authors: pilch j. Thromb Haemost. 2019 Feb;119(2):234-245. doi: 10.1055/s-0038-1676796. Epub 2019 Jan 16. Thromb Haemost. 2019. PMID: 30650445 Free article.
165 results