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Neurofibromatosis 1. Introduction.
Viskochil D. Viskochil D. Am J Med Genet. 1999 Mar 26;89(1):v-viii. Am J Med Genet. 1999. PMID: 10532908 No abstract available.
Double inactivation of NF1 in tibial pseudarthrosis.
Stevenson DA, Zhou H, Ashrafi S, Messiaen LM, Carey JC, D'Astous JL, Santora SD, Viskochil DH. Stevenson DA, et al. Among authors: d astous jl, viskochil dh. Am J Hum Genet. 2006 Jul;79(1):143-8. doi: 10.1086/504441. Epub 2006 May 10. Am J Hum Genet. 2006. PMID: 16773574 Free PMC article.
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: viskochil d. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
261 results