Présentation
Publications scientifiques
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2025Journal (source)Mol AutismDeciphering the genetic basis of developmental language disorder in children ...
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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)Nat Commun
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
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2020Journal (source)Am. J. Hum. Genet.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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2017Journal (source)Nat Commun
AMPA-receptor specific biogenesis complexes control synaptic transmission and...