| 臺大學術典藏 |
2022-05-17T06:03:52Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:27Z |
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
|
Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; CHENG-TING LEE |
| 臺大學術典藏 |
2022-03-09T06:48:39Z |
Camptomelic dysplasia: report of one case
|
Tsao, P. N.; Teng, R. J.; WUH-LIANG HWU; Tsou Yau, K. I.; Wang, T. R. |
| 臺大學術典藏 |
2022-03-09T06:47:02Z |
MPS I: Mutation and Polymorphism
|
Guey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG HWU; Tso-Ren Wang |
| 臺大學術典藏 |
2022-03-09T06:42:54Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; WUH-LIANG HWU; Lai, FeiPei; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-03-09T06:20:21Z |
Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region
|
Tsai, C. H.; Tsai, F. J.; WUH-LIANG HWU; Wang, T. R.; Shu, S. G.; Liu, S. C. |
| 臺大學術典藏 |
2022-03-09T06:18:20Z |
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; WUH-LIANG HWU; Tung, Yi-Ching |
| 臺大學術典藏 |
2022-03-09T06:16:15Z |
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease
|
WUH-LIANG HWU; Kiening, Karl; Anselm, Irina; Compton, David R; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-Ichi |
| 臺大學術典藏 |
2022-03-09T06:10:32Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
Lee, Ni-Chung; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG HWU; Chien, Yin-Hsiu |
| 臺大學術典藏 |
2022-02-18T08:11:43Z |
遺傳檢測倫理議題及遺傳諮詢倫理準則
|
Daniel Fu-Chang Tsai; Shang-Ju Yang; Chih-Ning Chang; WUH-LIANG HWU; Chih-Chao Yang |
| 臺大學術典藏 |
2022-02-14T23:55:57Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
NI-CHUNG LEE; Chang, Kai Ling; in 't Groen, Stijn L.M.; de Faria, Douglas O.S.; Huang, Hsiang Ju; Pijnappel, W. W.M.Pim; WUH-LIANG HWU; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-02-14T23:55:57Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin, Yi Lin; Chang, Pi Chuan; Hsu, Ching; Hung, Miao Zi; YIN-HSIU CHIEN; WUH-LIANG HWU; FEI-PEI LAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-02-14T23:55:56Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; YI-CHING TUNG |
| 臺大學術典藏 |
2022-02-14T23:55:56Z |
Advanced therapeutic strategy for hereditary neuromuscular diseases
|
WUH-LIANG HWU; Muramatsu, Shin Ichi; YIN-HSIU CHIEN; Byrne, Barry J. |
| 臺大學術典藏 |
2022-01-15T00:08:14Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen, Chih Ling; CHIEN-NAN LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; Chang, Tung Ming; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-12-14T23:12:28Z |
Molecular analysis of vietnamese patients with mucopolysaccharidosis type i
|
Can, Ngoc Thi Bich; Tran, Dien Minh; Bui, Thao Phuong; Nguyen, Khanh Ngoc; Nguyen, Hoang Huy; Nguyen, Tung Van; WUH-LIANG HWU; Tomatsu, Shunji; Vu, Dung Chi |
| 臺大學術典藏 |
2021-12-14T23:12:27Z |
Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency
|
CHUN-HWEI TAI; NI-CHUNG LEE; YIN-HSIU CHIEN; Byrne, Barry J.; Muramatsu, Shin Ichi; SHENG-HONG TSENG; WUH-LIANG HWU |
| 臺大學術典藏 |
2021-07-15T05:31:28Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-16T06:17:43Z |
Educational Course of the Wei Foundation for Pediatric Research Brief Case Reports-Neonatal Progeroid Syndrome
|
Wuh-Liang ??Hwu; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T06:15:53Z |
漢丁頓症之基因分析
|
Wuh-Liang ??Hwu;Shu-Chuan Chiang; WUH-LIANG HWU; Shu-Chuan Chiang |
| 臺大學術典藏 |
2020-12-16T06:10:43Z |
The Diagnosis and Treatment of Glycogen Storage Disease Type Ia
|
Wuh-Liang ??Hwu; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T06:07:18Z |
遺傳因素造成胎兒在子宮內生長遲緩之要因與結果分析
|
Wuh-Liang ??Hwu; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T06:04:36Z |
Reflection on the Practice and Ethics of Genetic Testing and Counseling in Taiwan
|
Fu-Chang Tsai;Wuh-Liang Hwu;Chin-Ning Chang;Chih-Chao Yang; Fu-Chang Tsai; WUH-LIANG HWU; Chin-Ning Chang; Chih-Chao Yang |
| 臺大學術典藏 |
2020-12-16T03:53:33Z |
Ethical Issues in Genetic Testing and the Ethical Guidelines for Genetic Counselling
|
Wuh-Liang Hwu;Daniel Fu-Chang Tsai;Shang-Ju Yang;Chih-Ning Chang;Chih-Chao Yang; WUH-LIANG HWU; Daniel Fu-Chang Tsai; Shang-Ju Yang; Chih-Ning Chang; Chih-Chao Yang |
| 臺大學術典藏 |
2020-12-16T03:51:01Z |
Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic Review
|
Wuh-Liang Hwu;Tze-Hsuan Wang;Yi-Ling Pan;Yu-Hsin Hsieh;Yin-Hsiu Chien;Hsiang-Ju Huang;Hua-Fang Liao; WUH-LIANG HWU; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao |
| 臺大學術典藏 |
2020-12-16T03:48:05Z |
Newborn Screening
|
N. C. Lee; Y. H. Chien; WUH-LIANG HWU; Wuh-Liang Hwu;Y. H. Chien;N. C. Lee |
| 臺大學術典藏 |
2020-12-16T03:43:51Z |
The Ethical Issues and National Policy in Population-based Genetic Screening
|
WUH-LIANG HWU; Daniel Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien |
| 臺大學術典藏 |
2019-10-19T01:46:51Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum
|
NI-CHUNG LEE; NI-CHUNG LEE;WEN-YU TSAI;SHIH-YAO LIU;Jong, Yiin-Jeng;Su, Yi-Ning;Chen, Ming;HUEY-LING CHEN;YUNG-LI YANG;KUAN-TING KUO;MU-ZON WU;WEN-HSI LIN;JIN-CHUNG SHIH;WUH-LIANG HWU;YI-CHING TUNG;CHENG-TING LEE; CHENG-TING LEE; YI-CHING TUNG; WUH-LIANG ??HWU; JIN-CHUNG SHIH; WEN-HSI LIN; MU-ZON WU; KUAN-TING KUO; YUNG-LI YANG; HUEY-LING CHEN; Chen, Ming; Su, Yi-Ning; Jong, Yiin-Jeng; SHIH-YAO LIU; WEN-YU TSAI |
| 臺大學術典藏 |
2019-10-14T05:56:44Z |
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Niu, Dau-Ming;MING-CHIH HO;REY-HENG HU;Liu, Chin-Su;Lin, Shuan-Pei;NI-CHUNG LEE;WUH-LIANG HWU;Yang, Chia-Feng;Lin, Niang-Cheng;Chiang, Chuan-Chi;Lai, Chih-Jou;Ho, Huey-Jane;Liao, Hsuan-Chieh;Lin, Hsiang-Yu;YIN-HSIU CHIEN;Chu, Tzu-Hung; Chu, Tzu-Hung; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU; NI-CHUNG LEE; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Ming |
| 臺大學術典藏 |
2019-10-03T08:04:03Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
WEN-YIH ISAAC TSENG;HON-MAN LIU;WUH-LIANG HWU;YIN-HSIU CHIEN;Peng, S.S.-F.; Peng, S.S.-F.; WEN-YIH ISAAC TSENG; YIN-HSIU CHIEN; WUH-LIANG ??HWU; HON-MAN LIU |
| 臺大學術典藏 |
2019-10-03T05:41:06Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
WUH-LIANG HWU;WEN-YIH ISAAC TSENG;Peng, Shinn Forng;Hsu, Yung Chin;NI-CHUNG LEE;YIN-HSIU CHIEN;Tseng, Chih Hsien; Tseng, Chih Hsien; YIN-HSIU CHIEN; NI-CHUNG LEE; Hsu, Yung Chin; Peng, Shinn Forng; WEN-YIH ISAAC TSENG; WUH-LIANG ??HWU |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
