Where I see patients (4)
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
VIrtual STudy in Achondroplasia for the US (VISTA)
sitting and standing measured in centimetres
Recruiting
More about this studyContact me
Soothing the soul
Our music therapy program nurtures patients with bedside serenades, rap workshops and more.
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