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- 2021
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Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
(
- Contribution to journal › Article
- 2009
-
Mark
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
(
- Contribution to journal › Article
- 2008
-
Mark
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
(
- Contribution to journal › Article