Where I see patients (1)
Selected research
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Dissecting the Reduced Penetrance of Putative Loss-of-Function Variants in Population-Scale Biobanks.
medRxiv : the preprint server for health sciences
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KCNK4-related channelopathy causing a neurodevelopmental syndrome.
BMJ case reports
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Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.
Ophthalmic genetics
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