Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 42 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2006Suppression of androgen receptor signaling in prostate cancer cells by an inhibitory receptor variantButler, L.; Centenera, M.; Neufing, P.; Buchanan, G.; Choong, C.; Ricciardelli, C.; Saint, K.; Lee, M.; Ochnik, A.; Yang, M.; Brown, M.; Tilley, W.
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2004Effect of β₂‐glycoprotein I null mutation on reproductive outcome and antiphospholipid antibody‐mediated pregnancy pathology in miceRobertson, S.; Roberts, C.; van Beijering, E.; Pensa, K.; Sheng, Y.; Shi, T.; Krilis, S.
2004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2000New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndromeCox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G.
2004De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyMcFarland, R.; Kirby, D.; Fowler, K.; Ohtake, A.; Ryan, M.; Amor, D.; Fletcher, J.; Dixon, J.; Collins, F.; Turnbull, D.; Taylor, R.; Thorburn, A.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2005A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disordersGensure, R.; Makitie, O.; Barclay, C.; Chan, C.; DePalma, S.; Bastepe, M.; Abuzahra, H.; Couper, R.; Mundlos, S.; Sillence, D.; Kokko, L.; Seidman, J.; Cole, W.; Juppner, H.
2005XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneStepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C.