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BELLEN, HUGO
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BELLEN, HUGO
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Concept
Brain Diseases
Academic Article
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Academic Article
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Academic Article
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Academic Article
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Academic Article
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Academic Article
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
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Brain Diseases