Presentation
Scientific Publications
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2025Journal (source)BrainChloride deregulation and GABA depolarization in MTOR-related malformations o...
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...