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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgThe Human Phenotype Ontology in 2024: phenotypes around the world
Download from doi.orgNatural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
UploadEpilepsy Course and Developmental Trajectories in STXBP1-DEE
Download from doi.orgComputational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery
Download from onlinelibrary.wiley.comMolecular Diagnostic Outcomes from 700 Cases
UploadAssessing the landscape of STXBP1-related disorders in 534 individuals
Download from academic.oup.comSCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
UploadTargeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
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