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| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression | Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Turner, Gillian; Bauters, Mareike; Jensen, Lars Riff... More | 2008 | — | 
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| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes | Hackett, Anna; Tarpey, Patrick S.; Tolmie, John; Yates, John R. W.; Turner, Gillian... More | 2010 | — |
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Author/Creator
- Abidi, Fatima E. (1)
- Bauters, Mareike (1)
- Boyle, Jackie (1)
- Corbett, Mark (1)
- Cox, James (1)
- Frints, Suzanna Gerarda Maria (1)
- Futreal, Andrew P. (1)
- Gecz, Jozef (1)
- Grigg, John (1)
Keyword
- Allan-Herndon-Dudley syndrome (1)
- CASK gene (1)
- MCT8 (1)
- X-inactivation (1)
- congenital nystagmus (1)
- expression (1)
- intellectual disability (1)
- mutation analysis (1)
