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| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation | Molinari, Florence; Foulquier, François; Matthijs, Gert; Gecz, Jozef; Munnich, Arnold... More | 2008 | — | 
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| Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS) | Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.... More | 2005 | — |
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Author/Creator
- Boissel, Sarah (1)
- Colleaux, Laurence (1)
- Edkins, Sarah (1)
- Edwards, Matthew (1)
- Foulquier, François (1)
- Franco, B. (1)
- Futreal, P. Andrew (1)
- Gecz, Jozef (1)
- Jakubiczka, S. (1)
- Konig, R. (1)
Keyword
- CFND (1)
- CFNS (1)
- EFNB1 (1)
- abnormalities (1)
- cause craniofrontonasal syndrome (1)
- cognitive function development (1)
- dysplasia (1)
- endocytosis (1)
- eph receptors (1)
