Hsiu-Fen Lee
6PUBLICATIONS
5CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jul 27, 2025
Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Shu-Ning Liu, Ching-Shiang Chi, Hsiu-Fen Lee
|Jul 21, 2025
Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.Yao-Lun Yang, Hsiu-Fen Lee, Ching-Shiang Chi
|May 24, 2024
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.Ching-Shiang Chi, Chi-Ren Tsai, Hsiu-Fen Lee
|Feb 27, 2023
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.Ching-Shiang Chi, Chi-Ren Tsai, Hsiu-Fen Lee
|Feb 25, 2023
Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center.Pei-Yu Wu, Ching-Shiang Chi, Chi-Ren Tsai
|Sep 23, 2022
Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature ReviewChing-Shiang Chi, Hsiu-Fen Lee, Chi-Ren Tsai
Pageof 1
