| 臺大學術典藏 |
2021-07-03T03:34:55Z |
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment
|
Wu C.-C.; Lu Y.-C.; PEI-JER CHEN; Liu A.Y.-Z.; Hwu W.-L.; Hsu C.-J. |
| 臺大學術典藏 |
2021-07-03T03:34:45Z |
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
|
Wu C.-C.; Lu Y.-C.; PEI-JER CHEN; Yeh P.-L.; Su Y.-N.; Hwu W.-L.; Hsu C.-J. |
| 臺大學術典藏 |
2021-07-02T03:42:41Z |
DiGeorge sequence with hypogammaglobulinemia: A case report
|
Chien Y.-H.; Yang Y.-H.; Chu S.-Y.; Hwu W.-L.; Kuo P.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2021-07-02T03:42:39Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
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Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chou C.-C.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2021-07-02T03:42:30Z |
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 |
| 臺大學術典藏 |
2021-07-02T03:42:10Z |
The genetics of atopic dermatitis
|
Chien Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2021-07-02T03:41:49Z |
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. |
| 臺大學術典藏 |
2021-07-02T03:41:15Z |
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 |
2021-07-02T02:35:35Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Chien Y.-H.; Han D.-S.; Hwu W.-L.; Thurberg B.L.; WEI-SHIUNG YANG |
| 臺大學術典藏 |
2021-07-02T02:35:16Z |
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan
|
Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; WEI-SHIUNG YANG; Hwu W.-L.; Chen P.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-06-29T08:16:06Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:16:05Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:15:50Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J. |
| 臺大學術典藏 |
2021-06-24T07:19:36Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.; Chien Y.-H.; LI-MIN HUANG; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
The controversy regarding diagnostic criteria for early myoclonic encephalopathy
|
Wang P.-J.; WANG-TSO LEE; Hwu W.-L.; Young C.; Yau K.-I.T.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
|
Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Tandem mass neonatal screening in Taiwan - Report from one center
|
HSIANG-PO HUANG; Chu K.-L.; Chien Y.-H.; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
HSIANG-PO HUANG; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:21Z |
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
|
Chien Y.H.; HSIANG-PO HUANG; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C. |
| 臺大學術典藏 |
2021-06-03T06:50:17Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
HSIANG-PO HUANG; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2021-05-18T05:54:28Z |
Complications of erythropoietin in navigated brain gene therapy: A case report
|
SHENG-HONG TSENG; Tai C.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-04-07T01:56:47Z |
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
|
TING-YU YEN; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C. |
| 臺大學術典藏 |
2021-03-29T06:37:04Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu, E.-T.; Hwu, W.-L.; Chien, Y.-H.; Hsu, C.; Chen, T.-F.; Chen, N.-Q.; Chou, H.-C.; Tsao, P.-N.; Fan, P.-C.; Tsai, I.-J.; Lin, S.-P.; Hsieh, W.-S.; Chang, T.-M.; Chen, C.-N.; Lee, C.-H.; Chou, Y.-Y.; Chiu, P.-C.; Tsai, W.-H.; Hsiung, H.-C.; Lai, F.; Lee, N.-C.; FEI-PEI LAI |
| 臺大學術典藏 |
2021-03-18T05:59:08Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; KAI-YUAN TZEN; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2021-03-18T05:59:06Z |
Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency
|
Lee N.-C.; Shieh Y.-D.; Chien Y.-H.; KAI-YUAN TZEN; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L. |
