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

Year Number of Results
1978 1
1979 1
1983 3
1985 2
1988 1
1989 2
1991 1
1994 1
1997 1
2000 1
2001 3
2002 1
2003 1
2004 1
2005 1
2006 2
2007 2
2008 1
2010 1
2011 3
2012 2
2013 1
2014 2
2015 7
2016 3
2017 2
2019 5
2020 6
2021 12
2022 8
2023 7
2024 1

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77 results

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Page 1
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: daniele p. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
Filgotinib Improved Health-Related Quality of Life and Led to Comprehensive Disease Control in Individuals with Ulcerative Colitis: Data from the SELECTION Trial.
Schreiber S, Feagan BG, Peyrin-Biroulet L, Vermeire S, Faes M, Harris K, Oortwijn A, Daniele P, Patel H, Danese S. Schreiber S, et al. Among authors: daniele p. J Crohns Colitis. 2023 Jun 16;17(6):863-875. doi: 10.1093/ecco-jcc/jjad018. J Crohns Colitis. 2023. PMID: 36756874 Free PMC article. Clinical Trial.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, De Luca A, Tartaglia M, Cavé H, Zenker M. Brinkmann J, et al. Among authors: daniele p. Eur J Hum Genet. 2021 Mar;29(3):524-527. doi: 10.1038/s41431-020-00743-3. Epub 2020 Oct 20. Eur J Hum Genet. 2021. PMID: 33082526 Free PMC article.
Obstructive sleep apnoea and frequency of occupational injury.
Hirsch Allen AJ, Park JE, Daniele PR, Fleetham J, Ryan CF, Ayas NT. Hirsch Allen AJ, et al. Among authors: daniele pr. Thorax. 2016 Jul;71(7):664-6. doi: 10.1136/thoraxjnl-2015-207994. Epub 2016 Mar 15. Thorax. 2016. PMID: 26980010
77 results