Where I see patients (2)
Selected research
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MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Epilepsia
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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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CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Clinical genetics
Clinical trials
Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With AS
Recruiting
More about this studyContact me
Saving future lives
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