Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 21-30 of 41 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
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.
2004Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activationYan, X.; Forbes, B.; McNeil, K.; Baxter, R.; Firth, S.
2011Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingFasquelle, L.; Scott, H.; Lenoir, M.; Wang, J.; Rebillard, G.; Gaboyard, S.; Venteo, S.; Francois, F.; Masset-Bonnefont, A.; Antonarakis, S.; Neidhart, E.; Chabbert, C.; Puel, J.; Guipponi, M.; Delprat, B.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2009The structure of an interdomain complex that regulates talin activityGoult, B.; Bate, N.; Anthis, N.; Wegener, K.; Gingras, A.; Patel, B.; Barsukov, I.; Campbell, I.; Roberts, G.; Critchley, D.
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.
2011Contribution of serotype and genetic background to virulence of serotype 3 and serogroup 11 pneumococcal isolatesMcAllister, L.; Ogunniyi, A.; Stroeher, U.; Leach, A.; Paton, J.; Camilli, A.
2013Interplay between manganese and iron in pneumococcal pathogenesis: Role of the orphan response regulator ritROng, C.; Potter, A.; Trappetti, C.; Walker, M.; Jennings, M.; Paton, J.; McEwan, A.; Payne, S.M.