I feel honored to search for cures that improve the lives of children.
Where I see patients (2)
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
Clinical trials
Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects with AS
Recruiting
More about this studyContact me
Feeling at home
From bedside bingo to therapy dogs, we're here to help kids smile and feel more like themselves.
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