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Results 31-40 of 54 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; 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.
2016Early cave art and ancient DNA record the origin of European bisonSoubrier, J.; Gower, G.; Chen, K.; Richards, S.; Llamas, B.; Mitchell, K.; Ho, S.; Kosintsev, P.; Lee, M.; Baryshnikov, G.; Bollongino, R.; Bover Arbos, P.; Burger, J.; Chivall, D.; Crégut-Bonnoure, E.; Decker, J.; Doronichev, V.; Douka, K.; Fordham, D.; Fontana, F.; et al.
2011Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1Burdon, K.; MacGregor, S.; Hewitt, A.; Sharma, S.; Chidlow, G.; Mills, R.; Danoy, P.; Casson, R.; Viswanathan, A.; Liu, J.; Landers, J.; Henders, A.; Wood, J.; Souzeau, E.; Crawford, A.; Leo, P.; Wang, J.; Rochtchina, E.; Nyholt, D.; Martin, N.; et al.
2011Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicryJoron, M.; Frezal, L.; Jones, R.; Chamberlain, N.; Lee, S.; Haag, C.; Whibley, A.; Becuwe, M.; Baxter, S.; Ferguson, L.; Wilkinson, P.; Salazar, C.; Davidson, C.; Clark, R.; Quail, M.; Beasley, H.; Glithero, R.; Lloyd, C.; Sims, S.; Jones, M.; et al.
2011Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaHahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al.
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.
2012A short-term in situ CO₂ enrichment experiment on Heron Island (GBR)Kline, D.; Teneva, L.; Schneider, K.; Miard, T.; Chai, A.; Marker, M.; Headley, K.; Opdyke, B.; Nash, M.; Valetich, M.; Caves, J.; Russell, B.; Connell, S.; Kirkwood, B.; Brewer, P.; Peltzer, E.; Silverman, J.; Caldeira, K.; Dunbar, R.; Koseff, J.; et al.
2012The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinomaPerez-Mancera, P.; Rust, A.; van der Weyden, L.; Kristiansen, G.; Li, A.; Sarver, A.; Silverstein, K.; Grützmann, R.; Aust, D.; Rümmele, P.; Knösel, T.; Herd, C.; Stemple, D.; Kettleborough, R.; Brosnan, J.; Li, A.; Morgan, R.; Knight, S.; Yu, J.; Stegeman, S.; et al.