Items where Author is "Thomas, N"

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Number of items: 8.

Journal article

THOMAS, L., SPURLOCK, G., EUDALL, C., THOMAS, N., HAMBEY, S.E., CHUZHANOVA, N., 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., THOMAS, N., HOI-PING, J., SIDE, L., DAVIES, S., HAAN, E., KERR, K., HUSON, S.M. 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., 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., EVANS, D.G., 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, S.M., DAVIES, M., THOMAS, N., CHUZHANOVA, N., GIOVANNINI, S., EVANS, D.G., 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., 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., 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, N.A., KRAWCZAK, M., THOMAS, N., NEMYTIKOVA, L.A., GUSEV, V.D. and COOPER, D.N., 2002. The evolution of the vertebrate â-globin gene promoter. Evolution, 56, pp. 154-162.

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