1. Adelaide Research & Scholarship

Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 11-20 of 43 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2009Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysisWalsh, M.; Buchanan, D.; Walters, R.; Roberts, A.; Arnold, S.; McKeone, D.; Clendenning, M.; Ruszkiewicz, A.; Jenkins, M.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Young, G.; Macrae, F.; Drini, M.; Woods, M.; Parry, S.; Jass, J.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisBerkovic, S.; Dibbens, L.; Oshlack, A.; Silver, J.; Katerelos, M.; Vears, D.; Lullmann-Rauch, R.; Blanz, J.; Zhang, K.; Stankovich, J.; Kalnins, R.; Dowling, J.; Andermann, E.; Andermann, F.; Faldini, E.; D'Hooge, R.; Vadlamudi, L.; Macdonnell, R.; Hodgson, B.; Bayly, M.; et al.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2007Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremorTarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
2007Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansWu, Y.; Arai, A.; Rumbaugh, G.; Srivastava, A.; Turner, G.; Hayashi, T.; Suzuki, E.; Jiang, Y.; Zhang, L.; Rodriguez, J.; Boyle, J.; Tarpey, P.; Raymond, F.; Nevelsteen, J.; Froyen, G.; Stratton, M.; Futreal, P.; Gecz, J.; Stevenson, R.; Schwartz, C.; et al.
2007Testing the 8-syndrome structure of the child behavior checklist in 30 societiesIvanova, M.; Achenbach, T.; Dumenci, L.; Rescorla, L.; Almqvist, F.; Weintraub, S.; Bilenberg, N.; Bird, H.; Chen, W.; Dobrean, A.; Dopfner, M.; Erol, N.; Fombonne, E.; Fonseca, A.; Frigerio, A.; Grietens, H.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Larsson, B.; et al.
2007The generalizability of the Youth Self-Report syndrome structure in 23 societiesIvanova, M.; Achenbach, T.; Dumenci, L.; Bilenberg, N.; Broberg, A.; Dopfner, M.; Forns, M.; Kanbayashi, Y.; Leung, P.; Mulatu, M.; Oh, K.; Sawyer, M.; Steinhausen, H.; Metzke, C.; Zilber, N.; Verhulst, F.; Rescorla, L.; Almqvist, F.; Bird, H.; Dobrean, A.; et al.
2007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyCavalleri, G.; Weale, M.; Shianna, K.; Singh, R.; Lynch, J.; Grinton, B.; Szoeke, C.; Murphy, K.; Kinirons, P.; O'Rourke, D.; Ge, D.; Depondt, C.; Claeys, K.; Pandolfo, M.; Gumbs, C.; Walley, N.; McNamara, J.; Mulley, J.; Linney, K.; Sheffield, L.; et al.
2009A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTarpey, P.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; et al.

Discover