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PreviewIssue DateTitleAuthor(s)
2014Aberrant GDF9 expression and activation are associated with common human ovarian disordersSimpson, C.; Robertson, D.; Al-Musawi, S.; Heath, D.; McNatty, K.; Ritter, L.; Mottershead, D.; Gilchrist, R.; Harrison, C.; Stanton, P.
2015p84 forms a negative regulatory complex with p110γ to control PI3Kγ signalling during cell migrationTurvey, M.; Klingler-Hoffmann, M.; Hoffmann, P.; McColl, S.
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.
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.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
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.
2012Activation of latent human GDF9 by a single residue change (Gly³⁹¹Arg) in the mature domainSimpson, C.; Stanton, P.; Walton, K.; Chan, K.; Ritter, L.; Gilchrist, R.; Harrison, C.
2013Tissue-specific and minor inter-individual variation in imprinting of IGF2R is a common feature of Bos taurus Concepti and not correlated with fetal weightBebbere, D.; Bauersachs, S.; Furst, R.; Reichenbach, H.; Reichenbach, M.; Medugorac, I.; Ulbrich, S.; Wolf, E.; Ledda, S.; Hiendleder, S.; Feil, R.

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