Where I see patients (1)
Selected research
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Co-occurring Usher syndrome Type 1 and Renal Failure.
Retinal cases & brief reports
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De novo variants in DENND5B cause a neurodevelopmental disorder.
American journal of human genetics
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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences
Clinical trials
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