臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

關於TAIR
	計畫說明

瀏覽
	典藏機構
	作者
	題名
	日期
	統計圖表
	機構即時統計
	學術趨勢

消息
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

著作權
	出版社及期刊政策查詢
	TAIR著作權會議記錄

相關連結
	機構典藏計畫網站
	ROAR
	OpenDOAR
	SHERPA
	OAIster
	JAIRO
	Ira
	DSPACE
	RWWR
	臺大學術典藏NTU Scholars

"hwu w l"的相關文件

回到依作者瀏覽
依題名排序	依日期排序

顯示項目 11-60 / 770 (共16頁)
1 2 3 4 5 6 7 8 9 10 > >>
每頁顯示[10|25|50]項目

機構	日期	題名	作者
臺大學術典藏	2022-03-28T02:46:03Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2022-03-28T02:46:00Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; YIN-HSIU CHIEN; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-03-28T02:45:58Z	RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients	Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN; Wang Y.-T.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2022-03-28T02:45:58Z	A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease	Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; Lee N.-C.; Lin C.-Y.; YIN-HSIU CHIEN
臺大學術典藏	2022-03-28T02:45:57Z	A novel deep intronic variant strongly associates with Alkaptonuria	Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2022-03-28T02:45:54Z	Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy	Chen C.-L.; Lee C.-N.; YIN-HSIU CHIEN; Hwu W.-L.; Chang T.-M.; Lee N.-C.
臺大學術典藏	2022-03-28T02:45:53Z	Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening	Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN
臺大學術典藏	2022-03-28T02:45:53Z	Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review	Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C.
臺大學術典藏	2022-03-28T02:45:46Z	Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency	Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L.
臺大學術典藏	2022-03-10T07:58:52Z	Molecular genetic study of Pompe disease in Chinese patients in Taiwan	Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.-M.
臺大學術典藏	2022-03-10T07:58:52Z	Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))	Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K.
臺大學術典藏	2022-03-10T03:55:03Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; NI-CHUNG LEE
臺大學術典藏	2022-03-10T03:55:02Z	RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients	Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2022-03-10T03:55:02Z	A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease	Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; NI-CHUNG LEE; Lin C.-Y.; Chien Y.-H.
臺大學術典藏	2022-03-10T03:55:01Z	A novel deep intronic variant strongly associates with Alkaptonuria	Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2022-03-10T03:55:01Z	Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy	Chen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE
臺大學術典藏	2022-03-10T03:55:00Z	Comparison of GATK and DeepVariant by trio sequencing	Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE
臺大學術典藏	2022-03-10T03:55:00Z	Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency	Tai C.-H.; NI-CHUNG LEE; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L.
臺大學術典藏	2022-03-10T02:31:40Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; PO-HAN LIN; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.
臺大學術典藏	2022-03-04T03:48:03Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; WEI-CHOU LIN; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-14T07:10:50Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-01-25T03:25:02Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L.
臺大學術典藏	2021-12-16T06:28:32Z	MRI in a case of adult-onset citrullinemia	YA-FANG CHEN; Huang, Y C; Liu, H M; Hwu, W L
臺大學術典藏	2021-11-26T05:56:53Z	Adenoviral interneuronal transportation after retrograde gene transfer in mice	LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H.
臺大學術典藏	2021-11-26T05:56:53Z	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H.
臺大學術典藏	2021-11-26T05:56:52Z	Valproic acid treatment in six patients with spinal muscular atrophy [5]	LI-KAI TSAI; Yang C.-C.; Hwu W.-L.; Li H.
臺大學術典藏	2021-11-26T05:56:52Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2021-11-26T05:56:51Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H.
臺大學術典藏	2021-11-26T05:56:51Z	Myopathy in Gaucher disease	LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L.
臺大學術典藏	2021-11-26T05:56:48Z	IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice	LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A.
臺大學術典藏	2021-11-26T05:56:47Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2021-11-26T05:56:44Z	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice	LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H.
臺大學術典藏	2021-11-26T05:56:40Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2021-11-26T05:56:32Z	A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice	Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H.
臺大學術典藏	2021-11-26T05:56:29Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C.
臺大學術典藏	2021-11-26T05:56:27Z	Clinical features of Pompe disease with motor neuronopathy	LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏	2021-11-26T05:56:19Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.; Peng W.-H.; LI-KAI TSAI; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏	2021-10-06T08:04:49Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-10-06T08:04:48Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; I-JUNG TSAI; Lee N.-C.
臺大學術典藏	2021-10-04T05:53:44Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; PI-CHUAN FAN; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-09-17T05:40:57Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.; Wu E.-T.; SHUENN-NAN CHIU; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏	2021-09-17T05:40:57Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2021-09-17T05:40:55Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2021-09-17T05:40:49Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2021-09-14T01:40:06Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; CHI-NIEN CHEN; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-09-02T00:09:13Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Kuo C.-W;Hwu W.-L;Chien Y.-H;Hsu C;Hung M.-Z;Lin I.-L;Lai F;Lee N.-C.; Kuo C.-W; Hwu W.-L; Chien Y.-H; Hsu C; Hung M.-Z; Lin I.-L; Lai F; Lee N.-C.; FEI-PEI LAI
臺大學術典藏	2021-09-01T01:54:02Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; ANN-LII CHENG; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.
臺大學術典藏	2021-08-23T07:09:05Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	Weng H.-L.; FENG-JUNG YANG; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2021-08-23T07:09:04Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	Weng H.-L.; FENG-JUNG YANG; Chen P.-R.; Hwu W.-L.; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2021-07-06T02:04:01Z	Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan	Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; Yang W.-S.; Hwu W.-L.; PEI-LUNG CHEN; Tsai W.-Y.

顯示項目 11-60 / 770 (共16頁)
1 2 3 4 5 6 7 8 9 10 > >>
每頁顯示[10|25|50]項目

	English \| 正體中文 \| 简体中文 \| 總筆數 :2853537
	造訪人次 : 45255491 線上人數 : 1162 教育部委託研究計畫計畫執行:國立臺灣大學圖書館