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- 2020
-
Mark
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
(
- Contribution to journal › Article
- 2016
-
Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article
- 2007
-
Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article