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Results 111-120 of 139 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2016Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Rigbye, K.; van Hasselt, P.; Burgess, R.; Damiano, J.; Mullen, S.; Petrovski, S.; Puranam, R.; van Gassen, K.; Gecz, J.; Scheffer, I.; McNamara, J.; Berkovic, S.; Hildebrand, M.
2013CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signalingStarokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G.; Mao, X.; Zaidi, I.; Hein, M.; McDonald, F.; Lenzner, S.; Zecha, A.; Ropers, H.; Kuss, A.; McGaughran, J.; Gecz, J.; Burstein, E.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2002Evolution of the human X - a smart and sexy chromosome that controls speciation and developmentGraves, J.; Gecz, J.; Hameister, H.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2016Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2Henden, L.; Freytag, S.; Afawi, Z.; Baldassari, S.; Berkovic, S.; Bisulli, F.; Canafoglia, L.; Casari, G.; Crompton, D.; Depienne, C.; Gecz, J.; Guerrini, R.; Helbig, I.; Hirsch, E.; Keren, B.; Klein, K.; Labauge, P.; LeGuern, E.; Licchetta, L.; Mei, D.; et al.
2018Robust imaging and gene delivery to study human lymphoblastoid cell linesJolly, L.; Sun, Y.; Carroll, R.; Homan, C.; Gecz, J.
2016Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in micePederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C.

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