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The Human Phenotype Ontology in 2021
Download from academic.oup.comGenotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Download from doi.orgFenfluramine for the Treatment of Dravet Syndrome and Lennox–Gastaut Syndrome
Download from link.springer.comTargeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
UploadLoss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
Download from doi.orgClinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
UploadAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Download from www.nature.comEmerging drugs for the treatment of Dravet syndrome
UploadPharmacokinetics and Drug Interaction of Antiepileptic Drugs in Children and Adolescents
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