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- 2014
-
Mark
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
(
- Contribution to journal › Article
- 2003
-
Mark
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene
(
- Contribution to journal › Article
- 2001
-
Mark
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
(
- Contribution to journal › Article