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Home > Our Research Activities > List Of Publications > De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

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Primrose syndrome: Characterization of the phenotype in 42 patients.

DLG4-related synaptopathy: a new rare brain disorder

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