I feel honored to search for cures that improve the lives of children.
Where I see patients (2)
Selected research
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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
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Modulating the unfolded protein response with ISRIB mitigates cisplatin ototoxicity.
Scientific reports
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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Science advances
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