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Your search keyword '"Ingrid E, Scheffer"' showing total 9 results

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1. Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of anSCN1Apoison exon in epilepsy

2. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

3. Individual fixel-based white matter abnormalities in the epilepsies

4. Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

5. Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP

6. Pathogenic MAST3 variants in the STK domain are associated with epilepsy

7. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

8. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

9. Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy

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