Adelaide Research & Scholarship: Search

Search

Results 1-6 of 6 (Search time: 0.002 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2015	Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems	Kumar, R.; Corbett, M.; Van Bon, B.; Gardner, A.; Woenig, J.; Jolly, L.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bieleńska, A.; Batanian, J.; Rosenfeld, J.; et al.
	2012	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability	Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
	2015	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.	Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
	2013	The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth	Jolly, L.; Homan, C.; Jacob, R.; Barry, S.; Gecz, J.
	2014	Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth	Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
	2017	Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis	Hinze, S.; Jackson, M.; Lie, S.; Jolly, L.; Field, M.; Barry, S.; Harvey, R.; Shoubridge, C.