Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author Edwards, M.
Showing results 1 to 5 of 5
Preview | Issue Date | Title | Author(s) |
| 2009 | A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family | Burdon, K.; Durkin, S.; Burke, M.; Edwards, M.; Pater, J.; Straga, T.; Gecz, J.; Liebelt, J.; Craig, J. |
| 2007 | Molecular consequences of dominant Bethlem myopathy collagen VI mutations | Baker, N.; Morgelin, M.; Pace, R.; Peat, R.; Adams, N.; Gardner, R.; Rowland, L.; Miller, G.; De Jonghe, P.; Ceulemans, B.; Hannibal, M.; Edwards, M.; Thompson, E.; Jacobson, R.; Quinlivan, R.; Aftimos, S.; Kornberg, A.; North, K.; Bateman, J.; Lamande, S. |
| 1997 | Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident | Wicking, C.; Shanley, S.; Smyth, I.; Gillies, S.; Negus, K.; Graham, S.; Suthers, G.; Haites, N.; Edwards, M.; Wainwright, B.; Chenevix Trench, G. |
| 2003 | PEHO and PEHO-like syndromes: Report of five Australian cases | Field, M.; Grattan-Smith, P.; Piper, S.; Thompson, E.; Haan, E.; Edwards, M.; James, S.; Wilkinson, I.; Ades, L. |
| 2005 | Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) | Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P. |