| 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 |
