Emanuele Agolini
Bambino Gesù Children's Hospital
23 papers found
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgCongenital heart defects in CTNNB1 syndrome: Raising clinical awareness
UploadANKRD11 variants: KBG syndrome and beyond
UploadMedulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis
Download from doi.orgCOVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells
Download from doi.orgLow-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
Download from doi.orgKBG syndrome: Common and uncommon clinical features based on 31 new patients
Download from api.wiley.comBurkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation
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