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

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

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Institution	Date	Title	Author
臺大學術典藏	2022-09-06T02:56:07Z	High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN
臺大學術典藏	2022-09-06T02:56:06Z	Comparison of GATK and DeepVariant by trio sequencing	Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.P.; Lee N.-C.
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	2022-03-28T02:46:04Z	Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation	Chen C.-A.; Tang N.L.S.; YIN-HSIU CHIEN; Zhang W.-M.; Wang J.-K.; Hwu W.-L.
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	2022-03-28T02:46:02Z	CTLA-4 gene mutation and multiple sclerosis: A case report and literature review	Lin T.-W.; Hu Y.-C.; Yang Y.-H.; YIN-HSIU CHIEN; Lee N.-C.; Yu H.-H.; Chiang B.-L.; Wang L.-C.
臺大學術典藏	2022-03-28T02:46:02Z	DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms	Yang T.-W.; Li Y.-H.; Chou C.-F.; Lai F.-P.; YIN-HSIU CHIEN; Yin H.-I.; Lee T.-T.; Hwa H.-L.
臺大學術典藏	2022-03-28T02:46:01Z	Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis	Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium

Showing items 6-15 of 345 (35 Page(s) Totally)
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