| 臺大學術典藏 |
2020-07-20T05:27:59Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
Lee N.-C.;Hsu W.-C.;Chang L.-M.;Chen Y.-C.;Huang P.-T.;Chien C.-C.;Chien Y.-H.;Chen C.-L.;Hwu W.-L.;Pei-Lin Lee; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; Hwu W.-L.; PEI-LIN LEE |
| 臺大學術典藏 |
2020-07-13T01:03:27Z |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng S.S.-F.;Chien Y.-H.;Hwu W.-L.;Liu H.-M.;Wen-Yih Tseng; Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; WEN-YIH TSENG |
| 臺大學術典藏 |
2020-07-03T06:08:21Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.;Yang C.-C.;Chen H.-L.;Hwu W.-L.;Mu-Zon Wu;Liu K.-L.;Wu M.-S.; Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; MU-ZON WU; Liu K.-L.; Wu M.-S. |
| 臺大學術典藏 |
2020-07-03T06:08:15Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Su Y.-N.; Yang Y.-L.; Chen H.-L.; Chen M.; Lin W.-H.; MU-ZON WU; Kuo K.-T.; Shih J.-C.; Hwu W.-L.; Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Mu-Zon Wu;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C. |
| 臺大學術典藏 |
2020-07-03T02:18:47Z |
Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area
|
Lee P.?I.;Chang M.?H.;Hwu W.?L.;Chuan-Liang Kao;Lee C.?Y.; Lee P.?I.; Chang M.?H.; Hwu W.?L.; CHUAN-LIANG KAO; Lee C.?Y. |
| 臺大學術典藏 |
2020-06-27T06:40:11Z |
DiGeorge sequence with hypogammaglobulinemia: A case report
|
Kuo P.-L.; BOR-LUEN CHIANG; Hwu W.-L.; Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Hwu W.-L.;Kuo P.-L.;Bor-Luen Chiang; Chien Y.-H.; Yang Y.-H.; Chu S.-Y. |
| 臺大學術典藏 |
2020-06-27T06:40:09Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
|
Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Chou C.-C.;Bor-Luen Chiang; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chou C.-C.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:40:01Z |
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan
|
Chien Y.-H.;Hwu W.-L.;Ariga T.;Chang K.-W.;Yang Y.-H.;Lin K.-H.;Bor-Luen Chiang; Chien Y.-H.; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:39:43Z |
The genetics of atopic dermatitis
|
Chien Y.-H.;Hwu W.-L.;Bor-Luen Chiang; Chien Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:39:24Z |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
|
Lee W.-I.;Huang J.-L.;Jaing T.-H.;Shyur S.-D.;Yang K.D.;Chien Y.-H.;Bor-Luen Chiang;Soong W.-J.;Chiou S.-S.;Shieh C.-C.;Lin S.-J.;Yeh K.-W.;Chen L.-C.;Ou L.-S.;Yao T.-C.;Lin T.-Y.;Chiu C.-H.;Huang Y.-C.;Wu K.-H.;Lin C.-Y.;Yu H.-H.;Yang Y.-H.;Yu H.-R.;Yen H.-J.;Hsieh M.-Y.;Kuo M.-L.;Hwu W.-L.;Tsai Y.-C.;Kuo H.-C.;Lin Y.-L.;Shih Y.-F.;Chang K.-W.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; BOR-LUEN CHIANG; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. |
| 臺大學術典藏 |
2020-06-27T06:38:52Z |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Bor-Luen Chiang; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-05-25T06:51:59Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Chang K.-J.;Hwu W.-L;Hsieh F.-J;Cheng A.-L;Lin C.-H;Sargeant A.M;Bai L.-Y;Yen-Shen Lu;Liu T.-P;Chien Y.-H;Huang A.-C;Lin P.-H;Kuo W.-H; Kuo W.-H; Lin P.-H; Huang A.-C; Chien Y.-H; Liu T.-P; YEN-SHEN LU; Bai L.-Y; Sargeant A.M; Lin C.-H; Cheng A.-L; Hsieh F.-J; Hwu W.-L; Chang K.-J. |
| 臺大學術典藏 |
2020-04-24T01:34:25Z |
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome
|
Hsu C.-J.; Hwu W.-L.; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Chen-Chi Wu |
| 臺大學術典藏 |
2020-04-24T01:34:25Z |
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment
|
Chen-Chi Wu; Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; Hwu W.-L.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-24T01:34:23Z |
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome
|
Wang S.-H.; Chen-Chi Wu; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; Hwu W.-L.; Yu I.-S.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-16T02:35:07Z |
The design and implementation of a next generation information system for newborn screening
|
FEI-PEI LAI; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; Chang, H.-Y.; Tang, M.-Y.; Tu, C.-M. |
| 臺大學術典藏 |
2020-04-16T02:34:58Z |
Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians
|
Chen, W.-H.;Hsieh, S.-L.;Hsu, K.-P.;Chen, H.-P.;Su, X.-Y.;Tseng, Y.-J.;Chien, Y.-H.;Hwu, W.-L.;Lai, F.; Chen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; Chien, Y.-H.; Hwu, W.-L.; Lai, F.; FEI-PEI LAI |
| 臺大學術典藏 |
2020-04-07T08:52:09Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Chien Y.-H.; Lu L.; JENG-YI SHIEH; Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-31T08:09:02Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Yang W.-S.; Thurberg B.L.; Hwu W.-L.; DER-SHENG HAN; Chien Y.-H.;Der-Sheng Han;Hwu W.-L.;Thurberg B.L.;Yang W.-S.; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-27T02:03:57Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Wu M.-S.; KAO-LANG LIU; Wu M.-Z.; Hwu W.-L.; Chen H.-L.; Yang C.-C.; Tsai C.-W.; Tsai C.-W.;Yang C.-C.;Chen H.-L.;Hwu W.-L.;Wu M.-Z.;Kao-Lang Liu;Wu M.-S. |
| 臺大學術典藏 |
2020-03-24T04:02:54Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Lu Y.-S.; Bai L.-Y.; Liu T.-P.; WEN-HUNG KUO; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J. |
| 臺大學術典藏 |
2020-03-23T07:52:30Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Tsai W.-Y.; Lee N.-C.; Liu S.-Y.; Jong Y.-J.; Su Y.-N.; Chen M.; Yang Y.-L.; Chen H.-L.; Wu M.-Z.; Kuo K.-T.; WEN-HSI LIN; Shih J.-C.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.;Tsai W.-Y.;Liu S.-Y.;Jong Y.-J.;Su Y.-N.;Chen M.;Chen H.-L.;Yang Y.-L.;Kuo K.-T.;Wu M.-Z.;WEN-HSI LIN;Shih J.-C.;Hwu W.-L.;Tung Y.-C.;Lee C.-T.; Lee C.-T. |
| 臺大學術典藏 |
2020-03-12T08:24:37Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Muramatsu S.-I.; SHENG-HONG TSENG; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2020-03-12T08:24:29Z |
Modified frameless stereotactic system for intracerebral delivery of viral vector in young children
|
Tai C.-H.; Hwu W.-L.; Wu R.-M.; SHENG-HONG TSENG |
| 臺大學術典藏 |
2020-03-11T05:22:50Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
Wang C.-C.;Chen Y.-W.;Wu E.-T.;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Shu-Chien Huang; Wang C.-C.; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Ko W.-J.; SHU-CHIEN HUANG |
