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PreviewIssue DateTitleAuthor(s)
2013Yunis-Varón Syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseCampeau, P.; Lenk, G.; Lu, J.; Bae, Y.; Burrage, L.; Turnpenny, P.; Corona-Rivera, J.; Morandi, L.; Mora, M.; Reutter, H.; Vulto-van Silfhout, A.; Faivre, L.; Haan, E.; Gibbs, R.; Meisler, M.; Lee, B.
2014Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human diseaseNewman, M.; Wilson, L.; Verdile, G.; Lim, A.; Khan, I.; Nik, S.; Pursglove, S.; Chapman, G.; Martins, R.; Lardelli, M.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2012Factor Inhibiting HIF (FIH) recognizes distinct molecular features within hypoxia-inducible factor-α (HIF-α) versus ankyrin repeat substratesWilkins, S.; Karttunen, S.; Hampton-Smith, R.; Murchland, I.; Chapman-Smith, A.; Peet, D.
2011Pneumolysin with low hemolytic activity confers an early growth advantage to Streptococcus pneumoniae in the bloodHarvey, R.; Ogunniyi, A.; Chen, A.; Paton, J.; Camilli, A.
2011Understanding the mechanism of insulin and insulin-like growth factor (IGF) receptor activation by IGF-IIAlvino, C.; Ong, S.; McNeil, K.; Delaine, C.; Booker, G.; Wallace, J.; Forbes, B.; Wilson, E.
2011NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2Dredge, B.; Jensen, K.; Valcarcel, J.

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