Associated Papers
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_3.XLS › NDD-NPDs
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Cordani R et al.
Neuropediatrics, 2022
Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.
Zhou Q et al.
Frontiers in Neurology, 2017
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