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PreviewIssue DateTitleAuthor(s)
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionFrints, S.; Lenzer, S.; Bauters, M.; Jensen, L.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M.; Roozendaal, K.; Schrander-Stumpel, C.; Tzschach, A.; Marynen, P.; Fryns, J.; Hamel, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; et al.
2008Epilepsy and mental retardation limited to females: an under-recognized disorderScheffer, I.; Turner, S.; Dibbens, L.; Bayly, M.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Wei, C.; Ullmann, R.; Ropers, H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M.; Andrews, P.; Wallace, G.; Kivity, S.; Lev, D.; et al.
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; 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.