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

Year Number of Results
1979 1
1982 1
1983 1
1986 2
1988 1
1990 1
1991 1
1993 1
1994 2
1995 3
1996 3
1997 4
1998 3
2000 8
2001 6
2002 5
2003 11
2004 6
2005 7
2006 9
2007 13
2008 16
2009 10
2010 14
2011 9
2012 17
2013 20
2014 21
2015 19
2016 25
2017 32
2018 26
2019 34
2020 37
2021 56
2022 44
2023 34
2024 17

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PubMed for id: 899689

467 results

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Page 1
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD, Althoff T, Elfferich P, Gutierrez-Mejia I, Sadik J, Bernstein JA, van Ierland Y, Kattentidt-Mouravieva AA, Nellist M, Abramson J, Martinez-Agosto JA. Besterman AD, et al. PLoS Genet. 2021 Jul 1;17(7):e1009651. doi: 10.1371/journal.pgen.1009651. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34197453 Free PMC article.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. Rodríguez-García ME, et al. Eur J Hum Genet. 2019 Sep;27(9):1369-1378. doi: 10.1038/s41431-019-0418-1. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053780 Free PMC article.
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P. Gordo G, et al. Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 28892148 Free article.
467 results