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Orphanet Journal of Rare Diseases|June 29, 2016
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Hsiu Huang, et al.
Diagnostics (Basel, Switzerland)|October 16, 2025
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM ScaleChung-Lin Lee, Hung-Hsiang Fang, Chih-Kuang Chuang, et al.
Human Molecular Genetics|January 15, 2026
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencingMeng-Ju Melody Tsai, Hsiao-Jung Kao, Chun-Yu Wei, et al.
Archives of Osteoporosis|March 6, 2025
Optimizing bone health with bisphosphonate therapies in pediatric osteogenesis imperfecta: a network meta-analysis of randomized trialsYing-Yu Wang, Yu-Cheng Su, Pei-Chun Lai, et al.
Journal of Personalized Medicine|November 27, 2021
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell SyndromeHsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.
International Journal of Medical Sciences|January 2, 2024
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell SyndromeHsiang-Yu Lin, Chung-Lin Lee, Yuan-Rong Tu, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|July 2, 2019
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe IllnessesEn-Ting Wu, Wuh-Liang Hwu, Yin-Hsiu Chien, et al.
Ebiomedicine|November 30, 2024
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya diseaseChia-Yi Li, Li-Wen Chen, Meng-Che Tsai, et al.
In Vivo (Athens, Greece)|December 26, 2023
Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 PatientsPen-Hua Su, Ju-Shan Yu, Yu-Zhen Wu, et al.
NPJ Genomic Medicine|August 10, 2019
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseMullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, et al.
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