Ching-Shiang Chi
6PUBLICATIONS
5CO-AUTHORS
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Publications (6)
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|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
|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
|Nov 27, 2020
Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders.Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai
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