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Showing items 76-125 of 326 (7 Page(s) Totally)
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| 國立交通大學 |
2014-12-08T15:31:33Z |
Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians
|
Chen, Wei-Hsin; Hsieh, Sheau-Ling; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei |
| 國立臺灣大學 |
2014 |
Outcome of early-treated type III Gaucher disease patients
|
Lee, Ni-Chung; Chien, Yin-Hsiu; Wong, Siew-Lee; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; 胡務亮; 彭信逢; 李妮鍾; 簡穎秀; 孫家棟 |
| 國立臺灣大學 |
2014 |
PROMINENT VACUOLATION OF THE EYELID LEVATOR MUSCLE IN AN EARLY-TREATED CHILD WITH INFANTILE-ONSET POMPE DISEASE
|
Chien, Yin-Hsiu; Lee, Ni-Chung; Tsai, Yueh-Ju; Thurberg, Beth L.; Tsai, Fuu-Jen; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Treatment of Congenital Neurotransmitter Deficiencies by Intracerebral Ventricular Injection of an Adeno-Associated Virus Serotype 9 Vector
|
Lee, Ni-Chung; Chien, Yin-Hsiu; Hu, Min-Hsiu; Liu, Wen-Shin; Chen, Pin-Wen; Wang, Wei-Hua; Tzen, Kai-Yuan; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
|
Tsai, I-Jung; Hwu, Wuh-Liang; Huang, Shu-Chien; Lee, Ni-Chung; Wu, En-Ting; Chien, Yin-Hsiu; Tsau, Yong-Kwei; 胡務亮; 吳恩婷; 蔡宜蓉; 黃書健; 李妮鍾; 簡穎秀; 曹永魁 |
| 國立臺灣大學 |
2014 |
Prominent vacuolation of the eyelid levator muscle in a child with infantile-onset Pompe disease treated since 2.5 months of age
|
Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
|
Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Chiu, Pao Chin; Ke, Yu-Yuan; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮 |
| 國立臺灣大學 |
2014 |
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots
|
Chen, Pin-Wen; Lee, Ni-Chung; Chien, Yin-Hsiu; Wu, Jia-Yun; Wang, Ping-Chun; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
|
Giugliani, Roberto; Hwu, Wuh-Liang; Tylki-Szymanska, Anna; Whiteman, David A. H.; Pano, Arian; 胡務亮 |
| 國立臺灣大學 |
2014 |
Systemic Administration of an AAV Vector Improved Survival and Autonomic Function in Young Mice with a Neurotransmitter Deficiency
|
Lee, Ni-Chung; Muramatsu, Shin-ichi; Chien, Yin-Hsiu; Barry, J. Barry; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta
|
Lin, Chia-Hsuan; Chien, Yin-Hsiu; Peng, Shinn-Forng; Tsai, Wen-Yu; Tung, Yi-Ching; Lee, Cheng-Ting; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; 蔡文友; 胡務亮; 童怡靖; 彭信逢; 李正婷; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Chien, Yin-Hsiu; Han, Der-Sheng; Hwu, Wuh-Liang; Thurberg, Beth L.; Yang, Wei-Shiung; 胡務亮; 簡穎秀; 楊偉勛 |
| 國立臺灣大學 |
2013 |
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency
|
Lee, Ni-Chung; Shieh, Yih-Dar; Chien, Yin-Hsiu; Tzen, Kai-Yuan; Yu, I-Shing; Chen, Pin-Wen; Hu, Min-Hsiu; Hu, Meng-kai; Muramatsu, Shin-ichi; Ichinose, Hiroshi; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Diagnosing mucopolysaccharidosis IVA
|
Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J.; D' Almeida, Vania; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N.; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin
|
Wang, Jing; Cui, Hong; Lee, Ni-Chung; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Craigen, William J.; Wong, Lee-Jun; Zhang, Victor Wei; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
|
Chen, Yi-Chen; Chien, Yin-Hsiu; Chen, Pin-Wen; Tang, Nelson Leung-Sang; Chiu, Pao-Chin; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Promising outcomes in glutaric aciduria type I patients detected by newborn screening
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Lee, Chee-Seng; Chien, Yin-Hsiu; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 李妮鍾; 黃愛珠; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
|
Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi; 胡務亮; 蔡紫薰; 許巍鐘; 陳俊安; 李妮鍾; 簡穎秀; 謝正宜 |
| 國立臺灣大學 |
2013 |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang, Li-Yun; Chen, Nien-I; Chen, Pin-Wen; Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟 |
| 國立臺灣大學 |
2013 |
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients
|
Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 曾凱元; 李妮鍾; 簡穎秀; 吳瑞美 |
| 國立臺灣大學 |
2013 |
Lung toxicity of hydroxypropyl-beta-cyclodextrin infusion
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Chien, Yin-Hsiu; Shieh, Yih-Dar; Yang, Chi-Yu; Lee, Ni-Chung; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Pompe Disease: Early Diagnosis and Early Treatment Make a Difference
|
Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
|
Johnson, Britt; Mascher, Hermann; Mascher, Daniel; Legnini, Elisa; Hung, Christina Y.; Dajnoki, Angela; Chien, Yin-Hsiu; Marodi, Laszlo; Hwu, Wuh-Liang; Bodamer, Olaf A.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G > A mutation
|
Chien, Yin-Hsiu; Bodamer, Olaf A.; Chiang, Shu-Chuan; Mascher, Hermann; Hung, Christina; Hwu, Wuh-Liang; 胡務亮; 簡穎秀; 蔣書娟 |
| 國立臺灣大學 |
2013 |
Restoration of the Motor and Behavior Phenotype with AAV9 in Aromatic L-Amino Acid Decarboxylase Deficiency Mice
|
Lee, Ni-Chung; Chien, Yin-Hsiu; Muramatsu, Shin-ichi; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan (vol 98, pg 72, 2009)
|
Lin, Hsiang-Yu; Chen, Ming-Ren; Chuang, Chih-Kuang; Chen, Chih-Ping; Lin, Dar-Shong; Chien, Yin-Hsiu; Ke, Yu-Yuan; Tsai, Fuu-Jen; Pan, Hui-Ping; Lin, Shio-Jean; Hwu, Wuh-Liang; Niu, Dau-Ming; Lee, Ni-Chung; Lin, Shuan-Pei; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
|
Chen, Szu-Ta; Su, Yi-Ning; Ni, Yen-Hsuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; Chang, Cheng-Chi; Chen, Huey-Ling; Chang, Mei-Hwei; 胡務亮; 倪衍玄; 張美惠; 張正琪; 李妮鍾; 簡穎秀; 蘇怡寧; 陳思達; 陳慧玲 |
| 國立臺灣大學 |
2012 |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Kuo, Wen-Hong; Lin, Po-Han; Huang, Ai-Chu; Chien, Yin-Hsiu; Liu, Tsang-Pai; Lu, Yen-Shen; Bai, Li-Yuan; Sargeant, Aaron M.; Lin, Ching-Hung; Cheng, Ann-Lii; Hsieh, Fon-Jou; Hwu, Wuh-Liang; Chang, King-Jen; 胡務亮; 郭文宏; 盧彥伸; 張金堅; 謝豐舟; 鄭安理; 黃愛珠; 簡穎秀; 林柏翰; 林璟宏 |
| 國立臺灣大學 |
2012 |
Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation
|
Li, Sing-Chung; Hwu, Wuh-Liang; Lin, Ju-Li; Bali, Deeksha S.; Yang, Chen; Chu, Shih-Ming; Chien, Yin-Hsiu; Chou, Hung-Chieh; Chen, Chien-Yi; Hsieh, Wu-Shiun; Tsao, Po-Nien; Chen, Yuan-Tsong; Lee, Ni-Chung; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease
|
Chien, Yin-Hsiu; Lee, Ni-Chung; Huang, Pei-Hsin; Lee, Wang-Tso; Thurberg, Beth L.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀; 黃佩欣 |
| 國立臺灣大學 |
2012 |
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency
|
Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 曾凱元; 李妮鍾; 簡穎秀; 吳瑞美 |
| 國立臺灣大學 |
2012 |
PSORS2 Is Due to Mutations in CARD14
|
Jordan, Catherine T.; Cao, Li; Roberson, Elisha D. O.; Pierson, Katherine C.; Yang, Chi-Fan; Joyce, Cailin E.; Ryan, Caitriona; Duan, Shenghui; Helms, Cynthia A.; Liu, Yin; Chen, Yongqing; McBride, Alison A.; Hwu, Wuh-Liang; Wu, Jer-Yuarn; Chen, Yuan-Tsong; Menter, Alan; Goldbach-Mansky, Raphaela; Lowes, Michelle A.; Bowcock, Anne M.; 胡務亮 |
| 國立臺灣大學 |
2012 |
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
|
Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Hsu, Li-Wen; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟; 徐儷文 |
| 國立臺灣大學 |
2012 |
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
|
Hwu, Wuh-Liang; Okuyama, Torayuki; But, Wai Man; Estrada, Sylvia; Gu, Xuefan; Hui, Joannie; Kosuga, Motomichi; Lin, Shuan-Pei; Ngu, Lock-Hock; Shi, Huiping; Tanaka, Akemi; Thong, Meow-Keong; Wattanasirichaigoon, Duangrurdee; Wasant, Pornswan; McGill, Jim; 胡務亮 |
| 國立臺灣大學 |
2012 |
Genome-Wide Gene Expression Analysis Implicates the Immune Response and Lymphangiogenesis in the Pathogenesis of Fetal Chylothorax
|
Yeang, Chen-Hsiang; Ma, Gwo-Chin; Shih, Jin-Chung; Yang, Yu-Shih; Chen, Chih-Ping; Chang, Shun-Ping; Wu, Sheng-Hai; Liu, Chin-San; Kuo, Shou-Jen; Chou, Hung-Chieh; Hwu, Wuh-Liang; Cameron, Alan D.; Ginsberg, Norman A.; Lin, Yi-Shing; Chen, Ming; 楊友仕; 施景中; 胡務亮; 周弘傑; 陳明 |
| 國立臺灣大學 |
2012 |
A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child
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Liu, Hsin-Ming; Tsai, Li-Ping; Chien, Yin-Hsiu; Wu, Jia-Feng; Weng, Wen-Chin; Peng, Shinn-Forng; Wu, En-Ting; Huang, Pei-Hsin; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 吳恩婷; 吳嘉峰; 蔡宜蓉; 李旺祚; 李妮鍾; 簡穎秀; 黃佩欣; 翁妏謹 |
| 國立臺灣大學 |
2011 |
Monitoring Urinary Glucose Tetrasaccharide Biomarker in Patients with Infantile and Late-Onset Pompe Disease Identified through Newborn Screening
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2011 |
The Use of Dried Blood Spot Samples in the Diagnosis of Lysosomal Storage Disorders - Current Status and Perspectives
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Dysmyelination in Early-Treated Patients with Glutaric Aciduria Type 1
|
李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Complex Rearrangements between Chromosomes 6, 10, and 11 with Multiple Deletions at Breakpoints
|
李妮鍾; 陳明; 馬國欽; 李東杰; 王慈柔; 柯瑜媛; 簡穎秀; 胡務亮; LEE, NI-CHUNG; CHEN, MING; MA, GWO-CHIN; LEE, DONG-JAY; WANG, TZU-JOU; KE, YU-YUAN; CHIEN, YIN- HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Diagnoses of Newborns and Mothers with Carnitine Uptake Defects through Newborn Screening
|
李妮鍾; 鄧亮生; 簡穎秀; 陳俊安; 林秀娟; 邱寶琴; 黃愛珠; 胡務亮; LEE, NI-CHUNG; TANG, NELSON LEUNG-SANG; CHIEN, YIN- HSIU; CHEN, CHUN-AN; LIN, SHIO-JEAN; CHIU, PAO- CHIN; HUANG, AI-CHU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Foxl2 Mutations in Taiwanese Patients with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
|
林瑋德; 周宜卿; 李妮鍾; 王仲興; 胡務亮; 林炫沛; 趙美琴; 蔡育勳; 蔡輔仁; LIN, WEI-DE; CHOU, I.-CHING; LEE, NI-CHUNG; WANG, CHUNG-HSING; HWU, WUH-LIANG; LIN, SHUAN-PEI; CHAO, MEI-CHYN; TSAI, YUHSIN; TSAI, FUU-JEN |
| 國立臺灣大學 |
2010 |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience from Two Centers in Taiwan
|
鄭康祥; 劉美英; 高銓宏; 陳燕彰; 蕭廣仁; 劉孜孜; 林翔宇; 牛道明; 江傳箕; 林如立; 林炫沛; 李妮鍾; 胡務亮; CHENG, KANG-HSIANG; LIU, MEI-YING; KAO, CHUAN-HONG; CHEN, YANN-JANG; HSIAO, KWANG-JEN; LIU, TZE-TZE; LIN, HSIANG-YU; NIU, DAU-MING; CHIANG, CHUAN-CHI; LIN, JU-LI; LIN, SHUAN-PEI; LEE, NI-CHUNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Reduction in Imiglucerase Dosage Causes Immediate Rise of Chitotriosidase Activity in Patients with Gaucher Disease
|
簡穎秀; 李妮鍾; 蔡輔仁; 趙美琴; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; TSAI, FUU-JEN; CHAO, MEI-CHYN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Differences in the Predominance of Lysosomal and Autophagic Pathologies between Infants and Adults with Pompe Disease: Implications for Therapy
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Enzymatic Activity of Methionine Adenosyltransferase Variants Identified in Patients with Persistent Hypermethioninemia
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Genetic Heterozygosity and Pseudodeficiency in the Pompe Disease Newborn Screening Pilot Program
|
簡穎秀; 李妮鍾; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Nationwide Survey of Extended Newborn Screening by Tandem Mass Spectrometry in Taiwan
|
牛道明; 簡穎秀; 江傳箕; 何慧珍; 胡務亮; 蔣思慧; 高銓宏; 劉孜孜; 江宏; 蕭廣仁; NIU, DAU-MING; CHIEN, YIN-HSIU; CHIANG, CHUAN-CHI; HO, HUI-CHEN; HWU, WUH-LIANG; CHIANG, SZU-HUI; KAO, CHUAN-HONG; LIU, TZE-TZE; CHIANG, HUNG; HSIAO, KWANG-JEN |
| 國立臺灣大學 |
2010 |
Newborn Screening for Fabry Disease by Measuring Gla Activity Using Tandem Mass Spectrometry
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Phenotypic Analyses and Mutation Screening of the Slc26a4 and Foxi1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (Dfnb4) or Pendred Syndrome
|
吳振吉; 呂盈璋; 陳培哲; 葉柏伶; 蘇怡寧; 胡務亮; 許權振; WU, CHEN-CHI; LU, YING-CHANG; CHEN, PEI-JER; YEH, PO-LIN; SU, YI-NING; HWU, WUH-LIANG; HSU, CHUAN-JEN |
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