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| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families | Hynes, Kim; Tarpey, Patrick; Haan, Eric; Turner, Gillian; Christodoulou, John... More | 2010 | — | 
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| Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome | Bijarnia, Sunita; Shaw, Peter; Vimpani, Anne; Smith, Robert; Pacey, Verity... More | 2009 | — |
Author/Creator
- Al Raisi, Zahyia (1)
- Bayly, Marta A. (1)
- Berkovic, Samuel F. (1)
- Bijarnia, Sunita (1)
- Brown, Natasha J. (1)
- Desai, Tarishi D. (1)
- Dibbens, Leanne M. (1)
- Gecz, Jozef (1)
- Gill, Deepak (1)
Keyword
- Hurler syndrome (1)
- PCDH19 mutations (1)
- enzyme replacement therapy (1)
- epilepsy (1)
- females (1)
- haematopoietic stem cell transplantation (1)
- laronidase (1)
- mental retardation (1)
