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Results 41-50 of 71 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Distinctive expansion of potential virulence genes in the genome of the oomycete fish pathogen Saprolegnia parasiticaJiang, R.; de Bruijn, I.; Haas, B.; Belmonte, R.; Löbach, L.; Christie, J.; van den Ackerveken, G.; Bottin, A.; Bulone, V.; Díaz-Moreno, S.; Dumas, B.; Fan, L.; Gaulin, E.; Govers, F.; Grenville-Briggs, L.; Horner, N.; Levin, J.; Mammella, M.; Meijer, H.; Morris, P.; et al.; McDowell, J.
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.
2011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKhan, K.; Rudkin, A.; Parry, D.; Burdon, K.; McKibbin, M.; Logan, C.; Abdelhamed, Z.; Muecke, J.; Fernandez-Fuentes, N.; Laurie, K.; Shires, M.; Fogarty, R.; Carr, I.; Poulter, J.; Morgan, J.; Mohamed, M.; Jafri, H.; Raashid, Y.; Meng, N.; Piseth, H.; et al.
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.