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Results 1-10 of 13 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Genome-wide identification of human FOXP3 target genes in natural regulatory T cellsSadlon, T.; Wilkinson, B.; Pederson, S.; Brown, C.; Bresatz, S.; Gargett, T.; Melville, E.; Peng, K.; D'Andrea, R.; Glonek, G.; Goodall, G.; Zola, H.; Shannon, F.; Barry, S.
2012CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesisPan, W.; Pham, V.; Stratman, A.; Castranova, D.; Kamei, M.; Kidd, K.; Lo, B.; Shaw, K.; Torres-Vazquez, J.; Mikelis, C.; Gutkind, J.; Davis, G.; Weinstein, B.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2013De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature reviewJolley, A.; Corbett, M.; McGregor, L.; Waters, W.; Brown, S.; Nicholl, J.; Yu, S.
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.
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.
2012Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delayLynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
2010DNA methylation-mediated Down-regulation of DNA methyltransferase-1 (DNMT1) is coincident with, but not essential for, global hypomethylation in human placentaNovakovic, B.; Wong, N.; Sibson, M.; Ng, H.; Morley, R.; Manuelpillai, U.; Down, T.; Rakyan, V.; Beck, S.; Hiendleder, S.; Roberts, C.; Craig, J.; Saffery, R.
2010De novo mutations of SETBP1 cause Schinzel-Giedion syndromeHoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.