Hakutulokset - 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... Tekijä Lin, Cheng-Yung, Lin, Hsiang-Yu, Chuang, Chih-Kuang, Zhang, Po-Hsiang, Tu, Ru-Yi, Lin, Shuan-Pei, Tsai, Huai-Jen

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II) Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012 Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Functional independence of Taiwanese patients with mucopolysaccharidoses Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome Tekijä 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

Hae kokoteksti Hae kokoteksti Hae kokoteksti