Showing results (1-10 of 60) with videos related to
Sort By:
Pageof 6
Pediatric Neurology|January 24, 2012
Tyrosine hydroxylase deficiency in Taiwanese infantsChing-Shiang Chi, Hsiu-Fen Lee, Chi-Ren TsaiJournal of the Formosan Medical Association = Taiwan Yi Zhi|January 16, 2004
Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblingsSan-Ging Shu, Chi-Ren Tsai, Ching-Shiang ChiJournal of the Neurological Sciences|January 1, 2010
Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutationJie-Yuan Li, Chia-Chi Hsu, Chi-Ren TsaiActa Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi|June 4, 2002
Spondyloepiphyseal dysplasia tarda: report of one caseSan-Ging Shu, Chi-Ren Tsai, Ching-Shiang ChiBrain & Development|October 5, 2016
Early cardiac involvement in an infantile Sandhoff disease case with novel mutationsHsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren TsaiClinical Neurology and Neurosurgery|February 12, 2022
Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathyHsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren TsaiBrain & Development|March 17, 2020
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese childrenHsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren TsaiArchives of Disease in Childhood|May 24, 2024
Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort studyChing-Shiang Chi, Chi-Ren Tsai, Hsiu-Fen LeeBrain Sciences|September 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 TsaiDevelopmental Medicine and Child Neurology|November 27, 2020
Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disordersHsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren TsaiPageof 6