Items where Author is "Thomas, N"

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Journal article

Thomas, L, Spurlock, G, Eudall, C, Thomas, N, Hambey, SE, Chuzhanova, N ORCID: 0000-0002-4655-3618, Brems, H, Legius, E and Upadhyaya, M, 2011. The germline and somatic NF1 mutational spectra associated with NF1 cutaneous neurofibromas: Identification of 60 novel somatic NF1 mutations. European Journal of Human Genetics, 20, pp. 411-419.

Spurlock, G, Bennett, E, Chuzhanova, N ORCID: 0000-0002-4655-3618, Thomas, N, Hoi-Ping, J, Side, L, Davies, S, Haan, E, Kerr, K, Huson, SM and Upadhyaya, M, 2009. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype. Journal of Medical Genetics, 46, pp. 431-437.

Upadhyaya, M, Spurlock, G, Kluwe, L, Chuzhanova, N ORCID: 0000-0002-4655-3618, Bennett, E, Thomas, N, Guha, A and Mautner, V, 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics, 10, pp. 251-263.

Upadhyaya, M, Kluwe, L, Spurlock, G, Monem, B, Majounie, E, Mantripragada, K, Ruggieri, M, Chuzhanova, N ORCID: 0000-0002-4655-3618, Evans, DG, Ferner, R, Thomas, N, Guha, A and Mautner, V, 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation, 29 (1), pp. 74-82. ISSN 1059-7794

Upadhyaya, M, Huson, SM, Davies, M, Thomas, N, Chuzhanova, N ORCID: 0000-0002-4655-3618, Giovannini, S, Evans, DG, Howard, E, Kerr, B, Griffiths, S, Consoli, C, Side, L, Adams, D, Pierpoint, M, Hachen, R, Barnicoat, A, Li, H, Wallace, P, Stevenson, D, Viskochil, D, Baralle, D, Haan, E, Turnpenny, P, Riccardi, V, Lazaro, C and Messiaen, L, 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics, 80, pp. 140-151.

Upadhyaya, M, Kluwe, L, Spurlock, G, Mantripragada, K, Majounie, E, Chuzhanova, N ORCID: 0000-0002-4655-3618, Evans, G, Ferner, R, Thomas, N, Guha, A and Mautner, V, 2007. The germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumours (MPNSTs). Human Mutation, 29, pp. 74-82.

Turner, C, Killoran, C, Thomas, N, Rosenberg, M, Chuzhanova, N ORCID: 0000-0002-4655-3618, Johnston, J, Kemel, Y, Cooper, D and Biesecker, L, 2003. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Human Genetics, 112, pp. 303-309.

Chuzhanova, NA ORCID: 0000-0002-4655-3618, Krawczak, M, Thomas, N, Nemytikova, LA, Gusev, VD and Cooper, DN, 2002. The evolution of the vertebrate â-globin gene promoter. Evolution, 56, pp. 154-162.

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