Publications
Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 ;2(1).
. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;101(5):716-724.
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