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Orphanet Journal of Rare Diseases|September 15, 2023
Changing clinical manifestations of Gaucher disease in TaiwanWen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, et al.Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|April 2, 2024
Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysisChien-An Shih, Chia-Chun Li, Yin-Fan Chang, et al.BMC Medical Genomics|April 26, 2024
Syndromic ciliopathy: a taiwanese single-center studyYu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, et al.Molecular Genetics & Genomic Medicine|February 15, 2026
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in TaiwanHsu-Heng Lin, Hui-An Chen, Shyh-Jer Lin, et al.Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi|January 7, 2025
BNT162b2 mRNA vaccine elicits robust virus-specific antibodies but poor cross-protective CD8<sup>+</sup> memory T cell responses in adolescents with type 1 diabetesChing-Fen Shen, Pei-De Chang, Yen-Yin Chou, et al.Molecular Genetics and Metabolism Reports|May 3, 2016
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case seriesHsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, et al.American Journal of Medical Genetics. Part A|April 27, 2018
Functional independence of Taiwanese children with Prader-Willi syndromeChung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, et al.The Journal of Pediatrics|April 5, 2023
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver DiseasesChi-Bo Chen, Jacob Shujui Hsu, Pei-Lung Chen, et al.Journal of Personalized Medicine|November 27, 2021
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann SyndromeHsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, et al.Diagnostics (Basel, Switzerland)|May 14, 2025
Functional Independence of Taiwanese Children with Silver-Russell SyndromeHung-Hsiang Fang, Chung-Lin Lee, Chih-Kuang Chuang, et al.Pageof 7