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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 2 |
2012 | 1 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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.
Item in Clipboard
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR.
Xue Y, et al.
Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5.
Mol Genet Genomic Med. 2014.
PMID: 25614871
Free PMC article.
Item in Clipboard
Achondroplasia with synostosis of multiple sutures.
Georgoulis G, Alexiou G, Prodromou N.
Georgoulis G, et al.
Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7.
Am J Med Genet A. 2011.
PMID: 21739570
Item in Clipboard
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V.
Accogli A, et al.
Am J Med Genet A. 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933.
Am J Med Genet A. 2015.
PMID: 25691418
Review.
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