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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 13
2013 16
2014 10
2015 4
2016 2
2017 2
2021 0
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Search Results

115 results
Results by year
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Page 1
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.
Krakow D, Lachman RS, Rimoin DL. Krakow D, et al. Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb. Genet Med. 2009. PMID: 19265753 Free PMC article.
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.
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
Foldynova-Trantirkova S, Wilcox WR, Krejci P. Foldynova-Trantirkova S, et al. Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 22045636 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.
NOTCHing the bone: insights into multi-functionality.
Engin F, Lee B. Engin F, et al. Bone. 2010 Feb;46(2):274-80. doi: 10.1016/j.bone.2009.05.027. Epub 2009 Jun 8. Bone. 2010. PMID: 19520195 Free PMC article. Review.
Molecular pathology of the fibroblast growth factor family.
Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR. Krejci P, et al. Hum Mutat. 2009 Sep;30(9):1245-55. doi: 10.1002/humu.21067. Hum Mutat. 2009. PMID: 19621416 Free PMC article. Review.
Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.
Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH. Joeng KS, et al. J Clin Invest. 2017 Jun 30;127(7):2678-2688. doi: 10.1172/JCI92617. Epub 2017 Jun 19. J Clin Invest. 2017. PMID: 28628032 Free PMC article.
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. Campeau PM, et al. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Graham JM Jr, Clark RD, Moeschler JB, Rogers RC. Graham JM Jr, et al. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981778 Free PMC article. Review.
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.
115 results
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