Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

by Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin
Published 2024-05-01

Antibacterial Activity of Silver Nanoparticles (AgNP) Confined to Mesostructured, Silica-Based Calcium Phosphate against Methicillin-Resistant <i>Staphylococcus aureus</i> (MRSA)

by Jung-Chang Kung, Wei-Hsun Wang, Chung-Lin Lee, Hao-Che Hsieh, Chi-Jen Shih
Published 2020-06-01

Functional Independence of Taiwanese Children with Osteogenesis Imperfecta

by Yu-Min Syu, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-07-01

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, a...

by Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
Published 2017-02-01

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

by Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
Published 2017-02-01

Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2021-10-01

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2021-06-01

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review

by Yu-Min Syu, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin, Shuan-Pei Lin, Chia-Jung Lee, Chih-Ping Chen
Published 2022-09-01

The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

by Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-03-01

Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II

by Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2021-02-01

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

by Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2020-12-01

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis

by Chung-Lin Lee, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-08-01

Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome

by Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-06-01

Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan

by Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2019-08-01

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2024-04-01

Reciprocal Learning for Robot Peers

by Tzuu-Hseng S. Li, Chih-Yin Liu, Ping-Huan Kuo, Yi-Hsuan Chen, Chun-Hsien Hou, Hua-Yu Wu, Chung-Lin Lee, Yi-Bin Lin, Wei-Hsin Yen, Cheng-Ying Hsieh
Published 2017-01-01

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

by Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Published 2019-10-01

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

by Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Published 2022-05-01

Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses

by Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ming-Ren Chen, Kuo-Tzu Sung, Shan-Miao Lin, Charles Jia-Yin Hou, Dau-Ming Niu, Tung-Ming Chang, Chung-Lieh Hung, Shuan-Pei Lin
Published 2020-01-01

Identification and Functional Characterization of <i>IDS</i> Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)

by Hsiang-Yu Lin, Ru-Yi Tu, Schu-Rern Chern, Yun-Ting Lo, Sisca Fran, Fang-Jie Wei, Sung-Fa Huang, Shin-Yu Tsai, Ya-Hui Chang, Chung-Lin Lee, Shuan-Pei Lin, Chih-Kuang Chuang
Published 2019-12-01