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Results 51-60 of 92 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2001A whole genome scan for differences in recombination rates among three Bos taurus breedsThomsen, H.; Reinsch, N.; Xu, N.; Bennewitz, J.; Looft, C.; Grupe, S.; Kuhn, C.; Brockmann, G.; Schwerin, M.; Leyhe-Horn, B.; Hiendleder, S.; Erhardt, G.; Medjugorac, I.; Russ, I.; Forster, M.; Brenig, B.; Reinhardt, F.; Reents, R.; Blumel, J.; Averdunk, G.; 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.
2008Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisBerkovic, S.; Dibbens, L.; Oshlack, A.; Silver, J.; Katerelos, M.; Vears, D.; Lullmann-Rauch, R.; Blanz, J.; Zhang, K.; Stankovich, J.; Kalnins, R.; Dowling, J.; Andermann, E.; Andermann, F.; Faldini, E.; D'Hooge, R.; Vadlamudi, L.; Macdonnell, R.; Hodgson, B.; Bayly, M.; 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.
1997Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean FeverAksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; et al.
2008Genome analysis of the platypus reveals unique signatures of evolutionWarren, W.; Hillier, L.; Graves, J.; Birney, E.; Ponting, C.; Grutzner, F.; Belov, K.; Miller, W.; Clarke, L.; Chinwall, A.; Yang, S.; Heger, A.; Locke, D.; Miethke, P.; Waters, P.; Veyrunes, F.; Fulton, L.; Fulton, B.; Graves, T.; Wallis, J.; et al.
2009Lin28 promotes transformation and is associated with advanced human malignanciesViswanathan, S.; Powers, J.; Einhorn, W.; Hoshida, Y.; Ng, T.; Toffanin, S.; O'Sullivan, M.; Lu, J.; Philips, L.; Lockhart, V.; Sha, S.; Tanwar, P.; Mermel, C.; Beroukhim, R.; Azam, M.; Teixeira, J.; Meyerson, M.; Hughes, T.; Llovet, J.; Mullighan, C.; et al.
2007Critical loads of metals and other trace elements to terrestrial environmentsLofts, S.; Chapman, P.; Dwyer, R.; McLaughlin, M.; Schoeters, I.; Sheppard, S.; Adams, W.; Alloway, B.; Antunes, P.; Campbell, P.; Davies, B.; Degryse, F.; De Vries, W.; Farley, K.; Garrett, R.; Green, A.; Groenenberg, B.; Hale, B.; Harrass, M.; Hendershot, W.; et al.