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Expanding Genetic Counselor Roles: A Model for Global Research Development
Download from doi.orgHuman KCNQ5 de novo mutations underlie epilepsy and intellectual disability
UploadAssessing the landscape of STXBP1-related disorders in 534 individuals
Download from academic.oup.comAssociation of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
UploadSCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
UploadRARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum
Download from doi.orgDefining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
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