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Results 41-49 of 49 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2007A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channelXu, R.; Thomas, E.; Jenkins, M.; Gazina, E.; Chiu, C.; Heron, S.; Mulley, J.; Scheffer, I.; Berkovic, S.; Petrou, S.
2007Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityVoss, A.; Gamble, R.; Collin, C.; Shoubridge, C.; Corbett, M.; Gecz, J.; Thomas, T.
2008Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutationTurner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, 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.
2008Resistance to mucosal lysozyme compensates for the fitness deficit of peptidoglycan modifications by Streptococcus pneumoniaeDavis, K.; Akinbi, H.; Standish, A.; Weiser, J.; Gilmore, M.S.
2006Site-specific amino acid frequency, fitness and the mutational landscape model of adaptation in human immunodeficiency virus type 1Da Silva, J.
2001Contribution of residues A54 and L55 of the human insulin-like growth factor-II (IGF-II) A domain to Type 2 IGF receptor binding specificityForbes, B.; McNeil, K.; Scott, C.; Surinya, K.; Cosgrove, L.; Wallace, J.

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