NOVA. The University of Newcastle's Digital Repository
List View
Showing items 1 - 4 of 4.
Add to Quick Collection All 4 Results
| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family | Burdon, Kathryn P.; Durkin, Shane R.; Burke, Mary; Edwards, Matthew; Pater, John... More | 2009 | — | 
|
|
| Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature | Dang, Ningning; Klingberg, Sandra; Murrell, Dédée F.; Rubin, Adam I.; Edwards, Matthew... More | 2008 | — |
|
|
| The adult phenotype in Costello syndrome | White, S. M.; Graham, J. M.; Kerr, B.; Gripp, K.; Weksberg, R.... More | 2005 | — |
|
|
| Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) | Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.... More | 2005 | — |
|
Author/Creator
- Bankier, A. (1)
- Borelli, Siegfried (1)
- Burdon, Kathryn P. (1)
- Burke, Mary (1)
- Craig, Jamie E. (1)
- Cytrynbaum, C. (1)
- Dang, Ningning (1)
- Durkin, Shane R. (1)
- Franco, B. (1)
Keyword
- CFND (1)
- CFNS (1)
- Costello syndrome (1)
- EFNB1 (1)
- Indigenous Australian (1)
- X-linked (1)
- abnormalities (1)
- adult phenotype (1)
- aplasia cutis (1)
- bladder carcinoma (1)
