Associated Papers
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Akter H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM3_ESM.xlsx › Supplemental_Table_1
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
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