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	2022-09-06T02:56:09Z	Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Weng W.-C.; Chen L.-C.; Huang Y.-H.; Wu C.-S.; Hwu W.-L.
臺大學術典藏	2022-09-06T02:56:09Z	Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	Lee N.-C.; YIN-HSIU CHIEN; Wang C.-H.; Wong S.-L.; Peng S.S.-F.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2022-09-06T02:56:08Z	Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity	Chan K.-W.; Wong C.-Y.; Leung D.; Yang X.; Fok S.F.S.; Mak P.H.S.; Yao L.; Ma W.; Mao H.; Zhao X.; Liang W.; Singh S.; Barbouche M.-R.; He J.-X.; Jiang L.-P.; Liew W.-K.; Le M.H.T.; Muktiarti D.; Santos-Ocampo F.J.; Djidjik R.; Belaid B.; Ismail I.H.; Abdul Latiff A.H.; Lee W.S.; Chen T.-X.; Liu J.; Jin R.; Wang X.; YIN-HSIU CHIEN; Yu H.-H.; Raj D.; Raj R.; Vaughan J.; Urban M.; Berg S.V.D.; Eley B.; Lee A.C.-W.; Isa M.S.; Ang E.Y.; Lee B.W.; Yeoh A.E.J.; Shek L.P.; Quynh Le N.N.; Nguyen V.A.T.; Phan Nguyen Lien A.; Capulong R.D.; Mallillin J.M.; Villanueva J.C.M.M.; Camonayan K.A.B.; Vera M.D.; Casis-Hao R.J.; Lobo R.C.M.; Foronda R.; Binas V.W.E.; Boushaki S.; Kechout N.; Phongsamart G.; Wongwaree S.; Jiratchaya C.; Lao-Araya M.; Trakultivakorn M.; Suratannon N.; Jirapongsananuruk O.; Chantveerawong T.; Kamchaisatian W.; Chan L.L.; Koh M.T.; Wong K.J.; Fong S.M.; Thong M.-K.; Latiff Z.A.; Noh L.M.; Silva R.D.; Jouhadi Z.; Al-Saad K.; Vignesh P.; Jindal A.K.; Rawat A.; Gupta A.; Suri D.; Yang J.; Au E.Y.-L.; Kwok J.S.-Y.; Chan S.-Y.; Hui W.Y.-F.; Chua G.T.; Duque J.R.; Cheong K.-N.; Chong P.C.Y.; Ho M.H.K.; Lee T.-L.; Wong W.H.-S.; Yang W.; Lee P.P.; Tu W.; Yang X.-Q.; Lau Y.L.
臺大學術典藏	2022-09-06T02:56:08Z	Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency	Yverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN; Huemer M.; Je?ina P.; Janssen M.C.H.; K?lker S.; Ko?ich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; Martins A.M.; Alonso J.B.; Chabrol B.; Crushell E.; Dionisi-Vici C.; Gr?newald S.; Mention K.; Mundy H.; Murphy E.; Fraile P.Q.; Ruiz C.J.; Ruiz G?mez M.?.; Santra S.; Scherer T.; Stainforth C.; Stepien K.M.; Sunder-Plassmann G.; Van Hove J.L.K.; E-HOD Consortium
臺大學術典藏	2022-09-06T02:56:07Z	Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test	Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN
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

Showing items 1-10 of 345 (35 Page(s) Totally)
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