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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: wallace p. 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.
Flow cytometry assay modifications: Recommendations for method validation based on CLSI H62 guidelines.
Monaghan SA, Eck S, Bunting S, Dong XX, Durso RJ, Gonneau C, Hays A, Illingworth A, League SC, Linskens E, McCausland M, McCloskey TW, Rolf N, Shi M, Wallace PK, Litwin V, Kern W, Deeb G, Nash V, Olteanu H. Monaghan SA, et al. Among authors: wallace pk. Cytometry B Clin Cytom. 2024 Aug 21. doi: 10.1002/cyto.b.22202. Online ahead of print. Cytometry B Clin Cytom. 2024. PMID: 39165120
716 results