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

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Showing items 11-20 of 770 (77 Page(s) Totally)
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Institution	Date	Title	Author
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.

Showing items 11-20 of 770 (77 Page(s) Totally)
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