1. Adelaide Research & Scholarship

Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-8 of 8 (Search time: 0.004 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(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.
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.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2010A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Hattersley, K.; Laurie, K.; Liebelt, J.; Gecz, J.; Durkin, S.; Craig, J.; Burden, K.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.

Discover