Functional consequences of C-terminal mutations in RUNX2
Article in Scientific Reports (July 2023)
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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Article in American Journal of Human Genetics (January 2023)
A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia
Article in Genes (June 2022)