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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 14
2009 19
2010 19
2011 8
2012 14
2013 16
2014 10
2015 4
2016 2
2017 2
2024 0

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118 results

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Page 1
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH. Marini JC, et al. Hum Mutat. 2007 Mar;28(3):209-21. doi: 10.1002/humu.20429. Hum Mutat. 2007. PMID: 17078022 Free PMC article. Review.
Notch signaling in skeletal stem cells.
Chen S, Lee BH, Bae Y. Chen S, et al. Calcif Tissue Int. 2014 Jan;94(1):68-77. doi: 10.1007/s00223-013-9773-z. Epub 2013 Aug 22. Calcif Tissue Int. 2014. PMID: 23963632 Free PMC article. Review.
Clinical review of genetic epileptic encephalopathies.
Noh GJ, Jane Tavyev Asher Y, Graham JM Jr. Noh GJ, et al. Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22342633 Free PMC article. Review.
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
118 results