1. Adelaide Research & Scholarship

Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 21-30 of 57 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2012Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delayLynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
2014Phenotype-genotype complexities: opening DOORSBerkovic, S.; Gecz, J.
2012CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityVoineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2012ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repressionShoubridge, C.; Tan, M.; Seiboth, G.; Gecz, J.

Discover