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Preview	Issue Date	Title	Author(s)
	2020	Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance	Thai, H.; Gardner, A.; Redpath, L.; Mattiske, T.; Dearsley, O.; Shaw, M.; Vulto-van Silfhout, A.T.; Pfundt, R.; Dixon, J.; McGaughran, J.; Pérez-Jurado, L.A.; Gécz, J.; Shoubridge, C.
	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.
	2011	Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations	Dibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.
	2017	Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases	Stessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
	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.
	2017	Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy	Ewans, L.J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.E.; Cowley, M.J.; Buckley, M.F.; Scheffer, I.E.; Jackson, M.R.; Roscioli, T.; Shoubridge, C.