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
Genomic insights into Rett syndrome-like features in Bangladeshi participants.
Akter H et al.
Genetics in Medicine Open, 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_MOESM4_ESM.xlsx › Supplemental_Table_2
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Kolc KL et al.
Translational Psychiatry, 2020
32366910 (PubMed )
Supplement: 41398_2020_803_MOESM5_ESM.pdf
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