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Preview	Issue Date	Title	Author(s)
	2017	Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations	Corbett, M.; Turner, S.; Gardner, A.; Silver, J.; Stankovich, J.; Leventer, R.; Derry, C.; Carroll, R.; Ha, T.; Scheffer, I.; Bahlo, M.; Jackson, G.; Mackey, D.; Berkovic, S.; Gecz, J.
	2020	Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion	Carroll, R.; Shaw, M.; Arvio, M.; Gardner, A.; Kumar, R.; Hodgson, B.; Heron, S.; McKenzie, F.; Järvelä, I.; Gecz, J.
	2020	Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics	Gecz, J.; Thomas, P.Q.
	2013	Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders	Nguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
	2010	Great expectations: using massively parallel sequencing to solve inherited disorders	Corbett, M.; Gecz, J.
	2018	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency	Jansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
	2018	Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism	Van Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J.