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

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Showing items 11-20 of 345 (35 Page(s) Totally)
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Institution	Date	Title	Author
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
臺大學術典藏	2022-03-28T02:46:00Z	STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa	Gutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; Hwu P.W.-L.; Toscano A.; Schoser B.
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	2022-03-28T02:45:59Z	Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R.
臺大學術典藏	2022-03-28T02:45:59Z	Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions	Chan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J.
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.

Showing items 11-20 of 345 (35 Page(s) Totally)
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