Where I see patients (1)
Selected research
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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Clinical genetics
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C12ORF57: a novel principal regulator of synaptic AMPA currents and excitatory neuronal homeostasis.
bioRxiv : the preprint server for biology
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Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
medRxiv : the preprint server for health sciences