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| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| 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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| A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation | Tarpey, Patrick S.; Smith, Raffaella; Stephens, Phil; Blow, Matt; Greenman, Chris... More | 2009 | — |
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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
- Corbett, Mark (2)
- Partington, Michael (2)
- Raymond, F. Lucy (2)
- Schwartz, Charles E. (2)
- Turner, Gillian (2)
- Abidi, Fatima (1)
- Abidi, Fatima E. (1)
Keyword
- CASK gene (1)
- X-chromosome coding (1)
- XLMR (1)
- congenital nystagmus (1)
- disease (1)
- disease-causing mutations (1)
- genetic etiology (1)
- intellectual disability (1)
- mental retardation (1)
- microduplication (1)
