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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 3
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Article type
Publication date

Search Results

150 results
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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
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.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. Among authors: pilch j. J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12. J Appl Genet. 2021. PMID: 33982229 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.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: pilch j. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
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.
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.
Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.
Modrzejewska S, Kotulska K, Kopyta I, Grędowska E, Emich-Widera E, Tomaszek K, Paprocka J, Chmielewski D, Pilch J, Pietruszewski J, Lemska A, Zawadzka M, Mazurkiewicz-Bełdzińska M. Modrzejewska S, et al. Among authors: pilch j. Neurol Neurochir Pol. 2021;55(3):289-294. doi: 10.5603/PJNNS.a2021.0020. Epub 2021 Feb 10. Neurol Neurochir Pol. 2021. PMID: 33565602 Free article.
Reconstruction of Ovine Trachea with a Biomimetic Composite Biomaterial.
Ścierski W, Lisowska G, Namysłowski G, Misiołek M, Pilch J, Menaszek E, Gawlik R, Błażewicz M. Ścierski W, et al. Among authors: pilch j. Biomed Res Int. 2018 Oct 17;2018:2610637. doi: 10.1155/2018/2610637. eCollection 2018. Biomed Res Int. 2018. PMID: 30417010 Free PMC article.
150 results