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

Year Number of Results
1989 2
1990 1
1991 1
1992 2
1993 7
1994 3
1995 8
1996 5
1997 3
1998 14
1999 5
2000 9
2001 8
2002 9
2003 6
2004 7
2005 9
2006 9
2007 15
2008 12
2009 17
2010 17
2011 6
2012 11
2013 14
2014 6
2015 2
2016 2
2021 0
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Search Results

196 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.
The skeletal dysplasias.
Krakow D, Rimoin DL. Krakow D, et al. Genet Med. 2010 Jun;12(6):327-41. doi: 10.1097/GIM.0b013e3181daae9b. Genet Med. 2010. PMID: 20556869 Review.
Sulfate transport in chondrodysplasia.
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Ann N Y Acad Sci. 1996 Jun 8;785:131-6. doi: 10.1111/j.1749-6632.1996.tb56251.x. Ann N Y Acad Sci. 1996. PMID: 8702119 Review. No abstract available.
Signaling pathways in human skeletal dysplasias.
Baldridge D, Shchelochkov O, Kelley B, Lee B. Baldridge D, et al. Annu Rev Genomics Hum Genet. 2010;11:189-217. doi: 10.1146/annurev-genom-082908-150158. Annu Rev Genomics Hum Genet. 2010. PMID: 20690819 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.
C-natriuretic peptide: an important regulator of cartilage.
Pejchalova K, Krejci P, Wilcox WR. Pejchalova K, et al. Mol Genet Metab. 2007 Nov;92(3):210-5. doi: 10.1016/j.ymgme.2007.06.014. Epub 2007 Aug 6. Mol Genet Metab. 2007. PMID: 17681481 Review.
Turner syndrome: an update and review for the primary pediatrician.
Doswell BH, Visootsak J, Brady AN, Graham JM Jr. Doswell BH, et al. Clin Pediatr (Phila). 2006 May;45(4):301-13. doi: 10.1177/000992280604500402. Clin Pediatr (Phila). 2006. PMID: 16703153 Review.
MICRO syndrome: an entity distinct from COFS syndrome.
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.
High molecular weight FGF2: the biology of a nuclear growth factor.
Chlebova K, Bryja V, Dvorak P, Kozubik A, Wilcox WR, Krejci P. Chlebova K, et al. Cell Mol Life Sci. 2009 Jan;66(2):225-35. doi: 10.1007/s00018-008-8440-4. Cell Mol Life Sci. 2009. PMID: 18850066 Free PMC article. Review.
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.
196 results
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