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PreviewIssue DateTitleAuthor(s)
2013The genomic landscape of hypodiploid acute lymphoblastic leukemiaTo, L.
2013Yunis-Varón Syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseCampeau, P.; Lenk, G.; Lu, J.; Bae, Y.; Burrage, L.; Turnpenny, P.; Corona-Rivera, J.; Morandi, L.; Mora, M.; Reutter, H.; Vulto-van Silfhout, A.; Faivre, L.; Haan, E.; Gibbs, R.; Meisler, M.; Lee, B.
2014Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human diseaseNewman, M.; Wilson, L.; Verdile, G.; Lim, A.; Khan, I.; Nik, S.; Pursglove, S.; Chapman, G.; Martins, R.; Lardelli, M.
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.
2010Prox1 expression is negatively regulated by miR-181 in endothelial cellsKazenwadel, J.; Michael, M.; Harvey, N.
2013Tissue-specific and minor inter-individual variation in imprinting of IGF2R is a common feature of Bos taurus Concepti and not correlated with fetal weightBebbere, D.; Bauersachs, S.; Furst, R.; Reichenbach, H.; Reichenbach, M.; Medugorac, I.; Ulbrich, S.; Wolf, E.; Ledda, S.; Hiendleder, S.; Feil, R.
2011NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2Dredge, B.; Jensen, K.; Valcarcel, J.

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