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Claudia Ravelli

University of Paris

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Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.

2021 Human Molecular Genetics
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Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

2021 Annals of clinical and translational neurology
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Tremor-like subcortical myoclonus in STXBP1 encephalopathy.

2021 European Journal of Paediatric Neurology
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