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

关于TAIR
	计画说明

浏览
	典藏机构
	作者
	题名
	日期
	统计图表
	机构即时统计
	学术趋势

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

著作权
	出版社及期刊政策查询
	TAIR著作权会议记录

相关连结
	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"的相关文件

回到依作者浏览
依题名排序	依日期排序

显示项目 11-35 / 770 (共31页)
1 2 3 4 5 6 7 8 9 10 > >>
每页显示[10|25|50]项目

机构	日期	题名	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.

显示项目 11-35 / 770 (共31页)
1 2 3 4 5 6 7 8 9 10 > >>
每页显示[10|25|50]项目

	English \| 正體中文 \| 简体中文 \| 总笔数 :2853524
	造访人次 : 45232319 在线人数 : 758 教育部委托研究计画计画执行:国立台湾大学图书馆