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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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2001 | 2 |
2003 | 1 |
2024 | 0 |
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Page 1
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
Am J Med Genet. 2001 Apr 1;99(4):328-30. doi: 10.1002/ajmg.1179.
Am J Med Genet. 2001.
PMID: 11252002
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC.
Gedeon AK, et al.
Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8.
Am J Hum Genet. 2001.
PMID: 11349230
Free PMC article.
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Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Shaw MA, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J.
Shaw MA, et al.
Clin Genet. 2003 Sep;64(3):235-42. doi: 10.1034/j.1399-0004.2003.00132.x.
Clin Genet. 2003.
PMID: 12919139
Review.
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