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PreviewIssue DateTitleAuthor(s)
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2008An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossGuipponi, M.; Toh, M.; Tan, J.; Park, D.; Hanson, K.; Ballana, E.; Kwong, D.; Cannon, P.; Wu, Q.; Gout, A.; Delorenzi, M.; Speed, T.; Smith, R.; Dahl, H.; Petersen, M.; Teasdale, R.; Estivill, X.; Park, W.; Scott, H.
2008AIRE'S CARD revealed, a new structure for the central tolerance provokes transcriptional plasticityFerguson, B.; Alexander, C.; Rossi, S.; Liiv, I.; Rebane, A.; Worth, C.; Wong, J.; Laan, M.; Peterson, P.; Jenkinson, E.; Anderson, G.; Scott, H.; Cooke, A.; Rich, T.
2008Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B geneGarrido, E.; Cormand, B.; Hopwood, J.; Chabas, A.; Grinberg, D.; Vilageliu, L.
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.
2008Re-evaluating the roles of proposed modulators of mammalian target of rapamycin complex 1 (mTORC1) signalingWang, X.; Fonseca, B.; Tang, H.; Liu, R.; Elia, A.; Clemens, M.; Bommer, U.; Proud, C.
2008Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel poreHoda, J.; Gu, W.; Friedli, M.; Phillips, H.; Bertrand, S.; Antonarakis, S.; Goudie, D.; Roberts, R.; Scheffer, I.; Marini, C.; Patel, J.; Berkovic, S.; Mulley, J.; Steinlein, O.; Bertrand, D.
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.

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