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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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| Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation | Froyen, Guy; Corbett, Mark; Chelly, Jamel; Sanlaville, Damien; van Bokhoven, Hans... More | 2008 | — |
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Author/Creator
- Abidi, Fatima (1)
- Bauters, Mareike (1)
- Bauters, Marijke (1)
- Chelly, Jamel (1)
- Corbett, Mark (1)
- Field, Michael (1)
- Frints, Suzanna Gerarda Maria (1)
- Froyen, Guy (1)
Keyword
- Allan-Herndon-Dudley syndrome (1)
- MCT8 (1)
- X-inactivation (1)
- XLMR (1)
- disease (1)
- expression (1)
- genetic etiology (1)
- microduplication (1)
- mutation analysis (1)
- phenotype (1)
