| 臺大學術典藏 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
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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 |
2022-03-28T02:45:58Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
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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
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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 |
2022-03-28T02:45:59Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
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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
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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 |
2022-03-28T02:46:00Z |
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
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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
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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 |
2022-03-28T02:46:01Z |
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
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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 |
2022-03-28T02:46:02Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
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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
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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 |
2022-03-28T02:46:03Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
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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 |
2022-03-28T02:46:04Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
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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 |
2022-03-28T03:06:46Z |
Prognostic Value of Interim 18F-DOPA and 18F-FDG PET/CT Findings in Stage 3-4 Pediatric Neuroblastoma
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Ko, Kuan-Yin; Yen, Ruoh-Fang; Ko, Chi-Lun; Chou, Shu-Wei; Chang, Hsiu-Hao; Yang, Yung-Li; Jou, Shiann-Tarng; Hsu, Wen-Ming; MENG-YAO LU |
| 臺大學術典藏 |
2022-03-28T03:26:38Z |
Characteristics and outcomes of second cancers in patients with childhood cancer: A report from the Taiwan Pediatric Oncology Group
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Ho, Wan-Ling; Hung, Giun-Yi; Yen, Hsiu-Ju; Yang, Yung-Li; Chang, Hsiu-Hao; MENG-YAO LU; Lin, Kai-Hsin; Chen, Jiann-Shiuh; Cheng, Chao-Neng; Hung, Iou-Jih; Yang, Chao-Ping; Chen, Shih-Hsiang; Liu, Hsi-Che; Yeh, Ting-Chi; Hou, Jen-Yin; Hsiao, Chih-Cheng; Sheen, Jiunn-Ming; Chang, Tai-Tsung; Wong, Tai-Tong; Miser, James S; Liu, Yen-Lin; Chen, Rong-Long; Chen, Bow-Wen; Peng, Ching-Tien; Chang, Te-Kau; Wu, Kang-Hsi; Chang, Yu-Hsiang; Wang, Jinn-Li; Wang, Shih-Chung; Lin, Ming-Tsan; Hu, Fu-Chang; Jou, Shiann-Tarng; Lin, Dong-Tsamn |
| 臺大學術典藏 |
2022-03-28T03:28:01Z |
Philadelphia chromosome-negative B-cell acute lymphoblastic leukaemia with kinase fusions in Taiwan
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Hsu, Yin-Chen; Yu, Chih-Hsiang; Chen, Yan-Ming; Roberts, Kathryn G; Ni, Yu-Ling; Lin, Kai-Hsin; Jou, Shiann-Tarng; MENG-YAO LU; Chen, Shu-Huey; Wu, Kang-Hsi; Chang, Hsiu-Hao; Lin, Dong-Tsamn; Lin, Shu-Wha; Lin, Ze-Shiang; Chiu, Wei-Tzu; Chang, Chia-Ching; Ho, Bing-Ching; Mullighan, Charles G; Yu, Sung-Liang; Yang, Yung-Li |
| 臺大學術典藏 |
2022-03-28T03:28:55Z |
Relationship between transfusion burden, healthcare resource utilization, and complications in patients with beta-thalassemia in Taiwan: A real-world analysis
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Tang, Chao-Hsiun; Furnback, Wesley; Wang, Bruce C M; Tang, Jackson; Tang, Derek; MENG-YAO LU; Huang, Vicky W-H; Musallam, Khaled M |
| 臺大學術典藏 |
2022-03-28T03:30:03Z |
Acute pancreatitis in children with acute lymphoblastic leukemia correlates with L-asparaginase dose intensity
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Chen, Chi-Bo; Chang, Hsiu-Hao; Chou, Shu-Wei; Yang, Yung-Li; MENG-YAO LU; Jou, Shiann-Tarng; Chen, Huey-Ling; Ni, Yen-Hsuan; Lin, Dong-Tsamn; Chang, Mei-Hwei; Wu, Jia-Feng |
| 臺大學術典藏 |
2022-03-28T05:25:25Z |
C1GALT1 expression predicts a favorable prognosis and suppresses malignant phenotypes via TrkA signaling in neuroblastoma
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Lin N.-Y.; Chen S.-T.; Chang H.-L.; Lu M.-Y.; Yang Y.-L.; Chou S.-W.; Lin D.-T.; Lin K.-H.; Jou S.-T.; Hsu W.-M.; Huang M.-C.; HSIU-HAO CHANG |
| 臺大學術典藏 |
2022-03-28T05:25:25Z |
Integration of immunohistochemistry, RNA sequencing, and multiplex ligation-dependent probe amplification for molecular classification of pediatric medulloblastoma
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Huang H.-Y.; Yu C.-H.; Yang Y.-L.; Chang Y.-H.; Jou S.-T.; Lin K.-H.; Lu M.-Y.; HSIU-HAO CHANG; Chou S.-W.; Ni Y.-L.; Lin D.-T.; Chen H.-Y.; Peng S.S.-F.; Kuo M.-F.; Yang S.-H. |
| 臺大學術典藏 |
2022-03-28T05:25:26Z |
Microcrater-arrayed chemiluminescence cell chip to boost anti-cancer drug administration in zebrafish tumor xenograft model
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Kuo C.-T.; Lai Y.-S.; Lu S.-R.; Lee H.; HSIU-HAO CHANG |
| 臺大學術典藏 |
2022-03-28T05:25:26Z |
Characteristics and outcomes of second cancers in patients with childhood cancer: A report from the Taiwan Pediatric Oncology Group
|
Ho W.-L.; Hung G.-Y.; Yen H.-J.; Yang Y.-L.; HSIU-HAO CHANG; Lu M.-Y.; Lin K.-H.; Chen J.-S.; Cheng C.-N.; Hung I.-J.; Yang C.-P.; Chen S.-H.; Liu H.-C.; Yeh T.-C.; Hou J.-Y.; Hsiao C.-C.; Sheen J.-M.; Chang T.-T.; Wong T.-T.; Miser J.S.; Liu Y.-L.; Chen R.-L.; Chen B.-W.; Peng C.-T.; Chang T.-K.; Wu K.-H.; Chang Y.-H.; Wang J.-L.; Wang S.-C.; Lin M.-T.; Hu F.-C.; Jou S.-T.; Lin D.-T. |
| 臺大學術典藏 |
2022-03-28T05:25:26Z |
Treatment outcomes of pediatric acute myeloid leukemia: a retrospective analysis from 1996 to 2019 in Taiwan
|
Yang Y.-L.; Jaing T.-H.; Chen S.-H.; Liu H.-C.; Hung I.-J.; Lin D.-T.; Yang C.-P.; Peng C.-T.; Lin K.-H.; Hsiao C.-C.; Jou S.-T.; Chen J.-S.; Lin M.-T.; Wang S.-C.; Chang T.-K.; Huang F.-L.; Cheng C.-N.; Wu K.-H.; Sheen J.-M.; Lu M.-Y.; Hung G.-Y.; Yen H.-J.; Hsieh Y.-L.; Wang J.-L.; Chang Y.-H.; HSIU-HAO CHANG; Yeh T.-C.; Weng T.-F.; Hou J.-Y.; Chen B.-W.; Chen R.-L.; Wang L.-Y.; Ho W.-L.; Chen Y.-C.; Cheng S.-N.; Chao Y.-H.; Yang S.-H.; Huang T.-H.; Chou S.-W.; Lin C.-Y.; Chen H.-Y.; Chao Y.-M.Y.; Liang D.-C.; Chang T.-T. |
| 臺大學術典藏 |
2022-03-28T05:27:14Z |
Negative prognostic implications of splenomegaly in nivolumab-treated advanced or recurrent pancreatic adenocarcinoma
|
Yang, Shih-Hung; Lu, Li-Chun; HSIANG-FONG KAO; Chen, Bang-Bin; Kuo, Ting-Chun; Kuo, Sung-Hsin; Tien, Yu-Wen; Bai, Li-Yuan; Cheng, Ann-Lii; Yeh, Kun-Huei |
| 臺大學術典藏 |
2022-03-28T05:34:25Z |
The impact of COVID-19 stressors on psychological distress and suicidality in a nationwide community survey in Taiwan
|
CHIA-YI WU; Lee M.-B.; Huong P.T.T.; Chan C.-T.; Chen C.-Y.; Liao S.-C. |
| 臺大學術典藏 |
2022-03-28T05:34:26Z |
Predictors for psychological distress of young burn survivors across three years: A cohort study of a burn disaster in Taiwan
|
Chen L.-Y.A.; CHIA-YI WU; Lee M.-B.; Lin C.-H.; Kao S.-C.; Tu C.-C.; Chen R.-C. |
