| 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 |
| 臺大學術典藏 |
2020-03-11T05:22:46Z |
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter
|
Shu-Chien Huang;Wu E.-T.;Chiu S.;Hwu W.-L.;Wu M.-H.;Wang S.-S.; SHU-CHIEN HUANG; Wu E.-T.; Chiu S.; Hwu W.-L.; Wu M.-H.; Wang S.-S. |
| 臺大學術典藏 |
2020-03-11T05:22:20Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
|
Tsai I.-J.;Hwu W.-L.;Shu-Chien Huang;Lee N.-C.;Wu E.-T.;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; SHU-CHIEN HUANG; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K. |
| 臺大學術典藏 |
2020-03-10T03:30:55Z |
Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case
|
Yang T.-Y.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.; Yang T.-Y.; HUEY-LING CHEN; Ni Y.-H.; Hwu W.-L.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-10T03:30:49Z |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Huey-Ling Chen;Ho M.-J.;Lee P.-H.;Hwu W.-L.; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; HUEY-LING CHEN; Ho M.-J.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:45Z |
Reye's syndrome developing in an infant on treatment of Kawasaki syndrome
|
Wei C.-M.;Huey-Ling Chen;Lee P.-I.;Chen C.-M.;Ma C.-Y.;Hwu W.-L.; Wei C.-M.; HUEY-LING CHEN; Lee P.-I.; Chen C.-M.; Ma C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:42Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.; Yang C.-C.; HUEY-LING CHEN; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; Wu M.-S.; Tsai C.-W.;Yang C.-C.;Huey-Ling Chen;Hwu W.-L.;Wu M.-Z.;Liu K.-L.;Wu M.-S. |
| 臺大學術典藏 |
2020-03-10T03:30:37Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Huey-Ling Chen;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; HUEY-LING CHEN; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:29Z |
Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease
|
Ling V.;Chang M.-H.;Jeng Y.-M.;Hwu W.-L.;HUEY-LING CHEN;Wang R.;HUEY-LING CHEN; HUEY-LING CHEN; Wang R.; Chen H.-L.; Hwu W.-L.; Jeng Y.-M.; Chang M.-H.; Ling V. |
| 臺大學術典藏 |
2020-03-10T03:30:29Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chen H.-W.; HUEY-LING CHEN; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-10T03:30:23Z |
X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
|
Chien Y.-H.; Ni Y.-H.; HUEY-LING CHEN; Chen S.-T.; Jeng Y.-M.; Chang M.-H.; Hwu W.-L. |
