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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses od 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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

Functional independence of Taiwanese patients with mucopolysaccharidoses od 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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst