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- 2016
-
Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article
- 2011
-
Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
- 2010
-
Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article