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SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
UploadClinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
Download from doi.orgDe novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Download from doi.orgDiagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
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