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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 6
2008 14
2009 18
2010 20
2011 9
2012 14
2013 16
2014 10
2015 4
2016 2
2017 2
2025 0

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120 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.
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.
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.
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28. Am J Hum Genet. 2005. PMID: 15739154 Free PMC article.
120 results