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PreviewIssue DateTitleAuthor(s)
2003Effect of heat shock and mutations in ClpL and ClpP on virulence gene expression in Streptococcus pneumoniaeKwon, H.; Kim, S.; Choi, M.; Ogunniyi, A.; Paton, J.; Park, S.; Pyo, S.; Rhee, D.
2004A genetic screen for dominant modifiers of a cyclin E hypomorphic mutation identifies novel regulators of S-Phase entry in DrosophilaBrumby, A.; Secombe, J.; Horsfield, J.; Coombe, M.; Amin, N.; Coates, D.; Saint, R.; Richardson, H.
2005Drosophila starvin encodes a tissue-specific BAG-domain protein required for larval food uptakeCoulson, M.; Robert, S.; Saint, R.
2006De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective studyBerkovic, S.; Harkin, L.; McMahon, J.; Pelekanos, J.; Zuberi, S.; Wirrell, E.; Gill, D.; Iona, X.; Mulley, J.; Scheffer, I.
2008Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activityNornes, S.; Newman, M.; Verdile, G.; Wells, S.; Stoick-Cooper, C.; Tucker, B.; Frederich-Sleptsova, I.; Martins, R.; Lardelli, M.
2001The molecular basis of X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Tiller, G.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I.; Savarirayan, R.; Cole, W.; Rimoin, D.; Kousseff, B.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; Mulley, J.
2007SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrumHerlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.
2006Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adultsJansen, F.; Sadleir, L.; Harkin, L.; Vadlamudi, L.; McMahon, J.; Mulley, J.; Scheffer, I.; Berkovic, S.
2005Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: Correlation with effects on growth and developmentDenley, A.; Wang, C.; McNeil, K.; Walenkamp, M.; van Duyvenvoorde, H.; Wit, J.; Wallace, J.; Norton, R.; Karperien, M.; Forbes, B.

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