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

Year Number of Results
1999 2
2000 1
2001 3
2002 3
2003 2
2005 4
2006 4
2007 5
2008 13
2009 18
2010 19
2011 8
2012 14
2013 16
2014 10
2015 4
2016 2
2017 2
2022 0
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116 results
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Page 1
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR. Xue Y, et al. Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1. Circ Cardiovasc Genet. 2016. PMID: 26933038 Free PMC article.
Notch activation as a driver of osteogenic sarcoma.
Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, Chen R, Donehower LA, Gannon F, Lee BH. Tao J, et al. Cancer Cell. 2014 Sep 8;26(3):390-401. doi: 10.1016/j.ccr.2014.07.023. Cancer Cell. 2014. PMID: 25203324 Free PMC article.
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
Cabral WA, Perdivara I, Weis M, Terajima M, Blissett AR, Chang W, Perosky JE, Makareeva EN, Mertz EL, Leikin S, Tomer KB, Kozloff KM, Eyre DR, Yamauchi M, Marini JC. Cabral WA, et al. PLoS Genet. 2014 Jun 26;10(6):e1004465. doi: 10.1371/journal.pgen.1004465. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24968150 Free PMC article.
116 results