Publications
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363.
. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 ;25(8):100856.
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