Canlyniadau Chwilio - Tu, Ru‐Yi

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated wi... gan Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Ru-Yi, Lin, Shuan-Pei, Tsai, Huai-Jen

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis gan Lin, Hsiang-Yu, Lo, Yun-Ting, Wang, Tuan-Jen, Huang, Sung-Fa, Tu, Ru-Yi, Chen, Tzu-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang

Cael y testun llawn Cael y testun llawn Cael y testun llawn

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature gan Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan gan Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome gan Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Shuan-Pei, Lin, Hsiang-Yu

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses gan Lee, Chung-Lin, Lee, Kuo-Sheng, Chuang, Chih-Kuang, Su, Chin-Hui, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan gan Lee, Chung-Lin, Lin, Shan-Miao, Chen, Ming-Ren, Chuang, Chih-Kuang, Syu, Yu-Min, Chiu, Huei-Ching, Tu, Ru-Yi, Lo, Yun-Ting, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II) gan Lin, Hsiang-Yu, Tu, Ru-Yi, Chern, Schu-Rern, Lo, Yun-Ting, Fran, Sisca, Wei, Fang-Jie, Huang, Sung-Fa, Tsai, Shin-Yu, Chang, Ya-Hui, Lee, Chung-Lin, Lin, Shuan-Pei, Chuang, Chih-Kuang

Cael y testun llawn Cael y testun llawn Cael y testun llawn

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan gan Lin, Hsiang-Yu, Lee, Chung-Lin, Lo, Yun-Ting, Tu, Ru-Yi, Chang, Ya-Hui, Chang, Chia-Ying, Chiu, Pao Chin, Chang, Tung-Ming, Tsai, Wen-Hui, Niu, Dau-Ming, Chuang, Chih-Kuang, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan gan Lee, Chung-Lin, Chuang, Chih-Kuang, Tu, Ru-Yi, Chiu, Huei-Ching, Lo, Yun-Ting, Chang, Ya-Hui, Chen, Yen-Jiun, Chou, Chao-Ling, Wu, Peih-Shan, Chen, Chih-Ping, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis gan Chuang, Chih-Kuang, Lee, Chung-Lin, Tu, Ru-Yi, Lo, Yun-Ting, Sisca, Fran, Chang, Ya-Hui, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Lin, Hsiang-Yu, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan gan Chuang, Chih-Kuang, Lin, Hsiang-Yu, Wang, Tuan-Jen, Huang, You-Hsin, Chan, Min-Ju, Liao, Hsuan-Chieh, Lo, Yun-Ting, Wang, Li-Yun, Tu, Ru-Yi, Fang, Yi-Ya, Chen, Tzu-Lin, Ho, Hui-Chen, Chiang, Chuan-Chi, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome gan Lin, Hsiang-Yu, Lee, Chung-Lin, Fran, Sisca, Tu, Ru-Yi, Chang, Ya-Hui, Niu, Dau-Ming, Chang, Chia-Ying, Chiu, Pao Chin, Chou, Yen-Yin, Hsiao, Hui-Pin, Yang, Chia-Feng, Tsai, Meng-Che, Chu, Tzu-Hung, Chuang, Chih-Kuang, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 gan Lin, Hsiang-Yu, Chuang, Chih-Kuang, Huang, Yu-Hsiu, Tu, Ru-Yi, Lin, Fang-Ju, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Chou, Yen-Yin, Tsai, Wen-Hui, Chang, Tung-Ming, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Functional independence of Taiwanese patients with mucopolysaccharidoses gan Lee, Chung‐Lin, Lin, Hsiang‐Yu, Chuang, Chih‐Kuang, Chiu, Huei‐Ching, Tu, Ru‐Yi, Huang, You‐Hsin, Hwu, Wuh‐Liang, Tsai, Fuu‐Jen, Chiu, Pao‐Chin, Niu, Dau‐Ming, Chen, Yann‐Jang, Chao, Mei‐Chyn, Chang, Tung‐Ming, Lin, Ju‐Li, Chang, Chia‐Ying, Kao, Yu‐Chia, Lin, Shuan‐Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome gan Lin, Hsiang-Yu, Lee, Chung-Lin, Fran, Sisca, Tu, Ru-Yi, Chang, Ya-Hui, Niu, Dau-Ming, Chang, Chia-Ying, Chiu, Pao-Chin, Chou, Yen-Yin, Hsiao, Hui-Pin, Tsai, Meng-Che, Chao, Mei-Chyn, Tsai, Li-Ping, Yang, Chia-Feng, Su, Pen-Hua, Pan, Yu-Wen, Lee, Chen-Hao, Chu, Tzu-Hung, Chuang, Chih-Kuang, Lin, Shuan-Pei

Cael y testun llawn Cael y testun llawn Cael y testun llawn