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Results 11-20 of 38 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2016The First Histidine Triad Motif of PhtD Is Critical for Zinc Homeostasis in Streptococcus pneumoniaeEijkelkamp, B.; Pederick, V.; Plumptre, C.; Harvey, R.; Hughes, C.; Paton, J.; McDevitt, C.; Camilli, A.
2013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
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.
2014Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulationLee, K.; Mattiske, T.; Kitamura, K.; Gecz, J.; Shoubridge, C.
2013RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertilityO'Bryan, M.; Clark, B.; McLaughlin, E.; D'Sylva, R.; O'Donnell, L.; Wilce, J.; Sutherland, J.; O'Connor, A.; Whittle, B.; Goodnow, C.; Ormandy, C.; Jamsai, D.; Barsh, G.
2014Haematopoietic stem cell induction by somite-derived endothelial cells controlled by meox1Nguyen, P.D.; Hollway, G.E.; Sonntag, C.; Miles, L.B.; Hall, T.E.; Berger, S.; Fernandez, K.J.; Gurevich, D.B.; Cole, N.J.; Alaei, S.; Ramialison, M.; Sutherland, R.L.; Polo, J.M.; Lieschke, G.J.; Currie, P.D.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
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.

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