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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 4
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Article attribute
Article type
Publication date

Search Results

146 results
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Page 1
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
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Balestrini S, et al. Among authors: pilch j. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913013 Free PMC article.
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.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: pilch j. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
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.
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.
Does Oxygen Uptake Before Physical Exercise Affect Tear Osmolarity?
Wylęgała A, Pilch J, Bolek B, Sędziak-Marcinek B, Wylęgała E. Wylęgała A, et al. Among authors: pilch j. J Hum Kinet. 2020 Jul 21;73:297-304. doi: 10.2478/hukin-2019-0118. eCollection 2020 Jul. J Hum Kinet. 2020. PMID: 32774560 Free PMC article.
146 results
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