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2008 | 2 |
2014 | 1 |
2024 | 0 |
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Orphanet J Rare Dis. 2014.
PMID: 24884629
Free PMC article.
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Prattichizzo C, et al.
Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Hum Mutat. 2008.
PMID: 18546297
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Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR.
Curry CJ, et al. Among authors: treisman t.
Am J Med Genet A. 2008 Aug 1;146A(15):1903-10. doi: 10.1002/ajmg.a.32450.
Am J Med Genet A. 2008.
PMID: 18627067
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