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PreviewIssue DateTitleAuthor(s)
2013Computational approaches to identify functional genetic variants in cancer genomesGonzalez-Perez, A.; Mustonen, V.; Reva, B.; Ritchie, G.; Creixell, P.; Karchin, R.; Vazquez, M.; Fink, J.; Kassahn, K.; Pearson, J.; Bader, G.; Boutros, P.; Muthuswamy, L.; Ouellette, B.; Reimand, J.; Linding, R.; Shibata, T.; Valencia, A.; Butler, A.; Dronov, S.; et al.
2013XThe eEF2 kinase confers resistance to nutrient deprivation by blocking translation elongationLeprivier, G.; Remke, M.; Rotblat, B.; Dubuc, A.; Mateo, A.; Kool, M.; Agnihotri, S.; El-Naggar, A.; Yu, B.; Prakash Somasekharan, S.; Faubert, B.; Bridon, G.; Tognon, C.; Mathers, J.; Thomas, R.; Li, A.; Barokas, A.; Kwok, B.; Bowden, M.; Smith, S.; et al.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.
2013Interlaboratory variability of caspofungin MICs for Candida spp. using CLSI and EUCAST methods: Should the clinical laboratory be testing this agent?Espinel-Ingroff, A.; Arendrup, M.; Pfaller, M.; Bonfietti, L.; Bustamante, B.; Canton, E.; Chryssanthou, E.; Cuenca-Estrella, M.; Dannaoui, E.; Fothergill, A.; Fuller, J.; Gaustad, P.; Gonzalez, G.; Guarro, J.; Lass-Florl, C.; Lockhart, S.; Meis, J.; Moore, C.; Ostrosky-Zeichner, L.; Pelaez, T.; et al.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2013MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype studyMakrythanasis, P.; van Bon, B.; Steehouwer, M.; Rodríguez-Santiago, B.; Simpson, M.; Dias, P.; Anderlid, B.; Arts, P.; Bhat, M.; Augello, B.; Biamino, E.; Bongers, E.; del Campo, M.; Cordeiro, I.; Cueto-González, A.; Cuscó, I.; Deshpande, C.; Frysira, E.; Izatt, L.; Flores, R.; et al.
2013Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horseBellone, R.; Holl, H.; Sealuri, V.; Devi, S.; Maddodi, N.; Archer, S.; Sandmeyer, L.; Ludwig, A.; Foerster, D.; Pruvost, M.; Reissmann, M.; Bortfeldt, R.; Adelson, D.; Lim, S.; Nelson, J.; Haase, B.; Engensteiner, M.; Leeb, T.; Forsyth, G.; Mienaltowski, M.; 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.