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Results 1-10 of 104 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2001Dynamic mutations: a decade of unstable expanded repeats in human genetic diseaseRichards, R.
2003Mutation of luxS of Streptococcus pneumoniae affects virulence in a mouse modelStroeher, U.; Paton, A.; Ogunniyi, A.; Paton, J.
2004The ClpP protease of Streptococcus pneumoniae modulates virulence gene expression and protects against fatal pneumococcal challengeKwon, H.; Ogunniyi, A.; Choi, M.; Pyo, S.; Rhee, D.; Paton, J.
2003Channelopathies as a genetic cause of epilepsyMulley, J.; Scheffer, I.; Petrou, S.; Berkovic, S.
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
1998Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2004Dynamic mutations on the move in BanffLa Spada, A.; Richards, R.; Wieringa, B.
2003Genetic modulation of Shigella flexneri 2a lipopolysaccharide O antigen modal chain length reveals that it has been optimized for virulenceMorona, R.; Daniels, C.; Van Den Bosch, L.
2007Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; et al.