Justine Rousseau
CHU-Sainte Justine Research Center
34 papers found
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The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice
Download from doi.orgHypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome
Download from doi.orgLysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Download from doi.orgBi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
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