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Orphanet Journal of Rare Diseases|September 24, 2013
A pilot newborn screening program for Mucopolysaccharidosis type I in TaiwanShuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, et al.
Orphanet Journal of Rare Diseases|February 12, 2014
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVAHsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, et al.
International Journal of Medical Sciences|October 4, 2023
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of PatientsChung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, et al.
Annals of Human Genetics|January 5, 2011
Genetic studies of Prader-Willi patients provide evidence for conservation of genomic architecture in proximal chromosome 15qAihua Hou, Shuan-Pei Lin, Shi Yun Ho, et al.
Pediatric Pulmonology|August 19, 2010
Polysomnographic characteristics in patients with mucopolysaccharidosesHsiang-Yu Lin, Ming-Ren Chen, Ching-Chi Lin, et al.
International Journal of Medical Sciences|September 15, 2021
Otorhinolaryngological Management in Taiwanese Patients with MucopolysaccharidosesChung-Lin Lee, Kuo-Sheng Lee, Chih-Kuang Chuang, et al.
Diagnostics (Basel, Switzerland)|August 29, 2024
Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki SyndromeChung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, et al.
Pediatrics and Neonatology|December 25, 2018
Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in TaiwanChung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, et al.
Diagnostics (Basel, Switzerland)|April 26, 2024
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki SyndromeChung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, et al.
European Journal of Medicinal Chemistry|December 23, 2022
Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cellsHung-Yi Lin, Shih-Ying Chang, Hsuan-Hsuan Teng, et al.
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