1. Adelaide Research & Scholarship

Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 11-18 of 18 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2002Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXStromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2005Early onset seizures and Rett-like features associated with mutations in CDKL5Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, 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.
1997Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activatorsGecz, J.; Bielby, S.; Sutherland, G.; Mulley, J.
2018A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKolc, K.; Sadleir, L.; Scheffer, I.; Ivancevic, A.; Roberts, R.; Pham, D.; Gecz, J.
2019A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayMucha, B.E.; Banka, S.; Ajeawung, N.F.; Molidperee, S.; Chen, G.G.; Koenig, M.K.; Adejumo, R.B.; Till, M.; Harbord, M.; Perrier, R.; Lemyre, E.; Boucher, R.M.; Skotko, B.G.; Waxler, J.L.; Thomas, M.A.; Hodge, J.C.; Gecz, J.; Nicholl, J.; McGregor, L.; Linden, T.; et al.

Discover