Browse by Journal

Up a level
Export as [feed] RSS
Group by: Item Type | No Grouping
Jump to: Article
Number of items: 6.

Article

Calmels, Nadege, Botta, Elena, Jia, Nan, Fawcett, Heather, Nardo, Tiziana, Nakazawa, Yuka, Lanzafame, Manuela, Moriwaki, Shinichi, Sugita, Katsuo, Kubota, Masaya, Orbinger, Cathy, Spitz, Marie-Aude, Stefanini, Miria, Laugel, Vincent, Orioli, Donata, Ogi, Tomoo and Lehmann, Alan Robert (2018) Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Journal of Medical Genetics, 55 (5). pp. 329-343. ISSN 0022-2593

Aflorei, Elena Daniela, Klapholz, Benjamin, Chen, Chenghao, Radian, Serban, Dragu, Anca Neluta, Moderau, Nina, Prodromou, Chrisostomos, Ribeiro, Paulo S, Stanewsky, Ralf and Korbonits, Marta (2018) In vivo bioassay to test the pathogenicity of missense human AIP variants. Journal of Medical Genetics, 55. pp. 522-529. ISSN 0022-2593

Abbaszadeh, Fatemah, Clingen, Peter H., Arlett, Colin F., Plowman, P.N, Bourton, E.C, Themis, M., Makarov, E.M., Newbold, R.F, Green, M H and Parris, C.N. (2010) A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensivity in a patient with xeroderma pigmentosum. Journal of Medical Genetics, 47 (3). pp. 176-181. ISSN 00222593

Roddam, P, Rollinson, S, O'Driscoll, M, Jeggo, P, Jack, A and Morgan, G (2002) Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. Journal of Medical Genetics, 39 (12). pp. 900-905.

Roddam, P. L., Rollinson, S., O'Driscoll, Mark, Jeggo, Penny, Jack, A. and Morgan, G. J. (2002) Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class-switch recombination. Journal of Medical Genetics, 39. pp. 900-905. ISSN 1468-6244

Newport, M, Levin, M, Blackwell, J, Shaw, M A, Williamson, R and Huxley, C (1995) Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. Journal of Medical Genetics, 32 (11). pp. 904-906. ISSN 0022-2593

This list was generated on Fri Sep 20 05:41:11 2019 BST.