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| Title | Author/Creator | Date | Full Text | Reviewed | |
|---|---|---|---|---|---|
| Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion | Clarke, Nigel F.; Waddell, Leigh B.; Guglieri, Michela; King, Mary D.; Farrell, Michael A.... More | 2010 | — | 
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| Mutations in TPM3 are a common cause of congenital fiber type disproportion | Clarke, Nigel F.; Kolski, Hanna; Labarre-Vila, Annick; Monnier, Nicole; Laing, Nigel G.... More | 2008 | — |
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Author/Creator
- Bellance, Rémi (1)
- Bushby, Kate (1)
- Cooper, Sandra T. (1)
- Dye, Danielle E. (1)
- Fahey, Michael C. (1)
- Farrell, Michael A. (1)
Keyword
- ACTA1 (1)
- Congenital fiber type disproportion (CFTD) (1)
- RYR1 (1)
- SEPN1 (1)
- clinical features (1)
- congenital fiber type disproportion (1)
- multi minicore disease (1)
