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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1994 | 1 |
2006 | 1 |
2012 | 1 |
2024 | 0 |
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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.
Nat Genet. 2012.
PMID: 23023332
Free PMC article.
A new missense mutation of fibrillin in a patient with Marfan syndrome.
Hewett DR, Lynch JR, Child A, Sykes BC.
Hewett DR, et al.
J Med Genet. 1994 Apr;31(4):338-9. doi: 10.1136/jmg.31.4.338.
J Med Genet. 1994.
PMID: 8071963
Free PMC article.
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Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T.
Kosaki K, et al.
Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. doi: 10.1002/ajmg.a.31006.
Am J Med Genet A. 2006.
PMID: 16333834
No abstract available.
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