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

Year Number of Results
1984 1
1990 1
1998 2
2000 1
2001 1
2002 3
2003 3
2004 2
2005 2
2006 2
2007 1
2008 1
2009 2
2010 11
2011 13
2012 12
2013 7
2014 7
2015 4
2016 1
2024 0

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Page 1
Cardiovascular findings in duplication 17p11.2 syndrome.
Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.
Extrapyramidal involvement in Rett's syndrome.
FitzGerald PM, Jankovic J, Glaze DG, Schultz R, Percy AK. FitzGerald PM, et al. Neurology. 1990 Feb;40(2):293-5. doi: 10.1212/wnl.40.2.293. Neurology. 1990. PMID: 2073236
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Mokhtarani M, et al. Mol Genet Metab. 2012 Nov;107(3):308-14. doi: 10.1016/j.ymgme.2012.08.006. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22958974 Free PMC article. Clinical Trial.
66 results