Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-9 of 9 (Search time: 0.005 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2016	Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism	Hughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2016	Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders	Moey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
	2016	Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome	Zhu, F.; Wang, F.; Yang, X.; Zhang, J.; Wu, H.; Zhang, Z.; Zhang, Z.; He, X.; Zhou, P.; Wei, Z.; Gecz, J.; Cao, Y.
	2016	Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?	Rigbye, K.; van Hasselt, P.; Burgess, R.; Damiano, J.; Mullen, S.; Petrovski, S.; Puranam, R.; van Gassen, K.; Gecz, J.; Scheffer, I.; McNamara, J.; Berkovic, S.; Hildebrand, M.
	2016	Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2	Henden, L.; Freytag, S.; Afawi, Z.; Baldassari, S.; Berkovic, S.; Bisulli, F.; Canafoglia, L.; Casari, G.; Crompton, D.; Depienne, C.; Gecz, J.; Guerrini, R.; Helbig, I.; Hirsch, E.; Keren, B.; Klein, K.; Labauge, P.; LeGuern, E.; Licchetta, L.; Mei, D.; et al.
	2016	Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice	Pederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
	2016	A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability	Kumar, R.; Ha, T.; Pham, D.; Shaw, M.; Mangelsdorf, M.; Friend, K.L.; Hobson, L.; Turner, G.; Boyle, J.; Field, M.; Hackett, A.; Corbett, M.; Gecz, J.
	2016	Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy	Corbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.