1. Adelaide Research & Scholarship

Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-5 of 5 (Search time: 0.003 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(s)
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, 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.
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.
2003Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneDavis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.
2006Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceMann, G.; Thorne, H.; Balleine, R.; Butow, P.; Clarke, C.; Edkins, E.; Evans, G.; Fereday, S.; Haan, E.; Gattas, M.; Giles, G.; Goldblatt, J.; Hopper, J.; Kirk, J.; Leary, J.; Lindeman, G.; Niedermayr, E.; Phillips, K.; Picken, S.; Pupo, G.; et al.

Discover