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

Year Number of Results
1981 2
1983 1
1985 1
1989 1
1994 1
1995 2
1996 2
1997 5
1998 2
1999 1
2000 5
2001 4
2002 3
2003 1
2004 3
2005 6
2006 6
2007 2
2008 6
2009 10
2010 7
2011 7
2012 4
2013 4
2014 8
2015 13
2016 9
2017 9
2018 13
2019 16
2020 14
2021 16
2022 15
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173 results
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Page 1
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: saint martin c. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
Trametinib for progressive pediatric low-grade gliomas.
Kondyli M, Larouche V, Saint-Martin C, Ellezam B, Pouliot L, Sinnett D, Legault G, Crevier L, Weil A, Farmer JP, Jabado N, Perreault S. Kondyli M, et al. Among authors: saint martin c. J Neurooncol. 2018 Nov;140(2):435-444. doi: 10.1007/s11060-018-2971-9. Epub 2018 Aug 10. J Neurooncol. 2018. PMID: 30097824
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. Among authors: saint martin c. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999
Isolated bilateral congenital lacrimal gland agenesis-a case series.
Alghazawi N, Modabber M, Darwich R, Saskin A, Russell L, Saint-Martin C, Khan A. Alghazawi N, et al. Among authors: saint martin c. J AAPOS. 2021 Apr;25(2):109-112.e1. doi: 10.1016/j.jaapos.2020.11.008. Epub 2021 Feb 16. J AAPOS. 2021. PMID: 33601047
KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.
Clinical utility of methionine restriction in adenosine kinase deficiency.
Almuhsen N, Guay SP, Lefrancois M, Gauvin C, Al Bahlani AQ, Ahmed N, Saint-Martin C, Gagnon T, Waters P, Braverman N, Buhas D. Almuhsen N, et al. Among authors: saint martin c. JIMD Rep. 2021 Jul 27;61(1):52-59. doi: 10.1002/jmd2.12238. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485018 Free PMC article.
173 results