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Results 11-17 of 17 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2010Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionShoubridge, C.; Tan, M.; Fullston, T.; Cloosterman, D.; Coman, D.; McGillivray, G.; Mancini, G.; Kleefstra, T.; Gecz, J.
2010A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CJensen, L.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Numann, A.; Janecke, A.; Sporle, R.; Stricker, S.; Raynaud, M.; Nelson, J.; Hackett, A.; Fryns, J.; Chelly, J.; de Brouwer, A.; Hamel, B.; Gecz, J.; Ropers, H.; Kuss, A.
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.
2010Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersWhite, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.
2010Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disabilityShoubridge, C.; Walikonis, R.; Gecz, J.; Harvey, R.
2010A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Hattersley, K.; Laurie, K.; Liebelt, J.; Gecz, J.; Durkin, S.; Craig, J.; Burden, K.