Where I see patients (2)
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