| 臺大學術典藏 |
2022-03-10T07:58:52Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2022-03-10T03:55:03Z |
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.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
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.; Chien Y.-H.; Wang Y.-T.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
|
Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; NI-CHUNG LEE; Lin C.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; NI-CHUNG LEE; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-10T02:31:40Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Kuo W.-H.; PO-HAN LIN; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; 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 |
2022-03-04T03:48:03Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; WEI-CHOU LIN; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-02-14T07:10:50Z |
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.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-01-25T03:25:02Z |
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.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L. |
| 臺大學術典藏 |
2021-12-16T06:28:32Z |
MRI in a case of adult-onset citrullinemia
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YA-FANG CHEN; Huang, Y C; Liu, H M; Hwu, W L |
| 臺大學術典藏 |
2021-11-26T05:56:53Z |
Adenoviral interneuronal transportation after retrograde gene transfer in mice
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LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:53Z |
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
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LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:52Z |
Valproic acid treatment in six patients with spinal muscular atrophy [5]
|
LI-KAI TSAI; Yang C.-C.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:52Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
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Chien Y.H.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2021-11-26T05:56:51Z |
Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy
|
LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:51Z |
Myopathy in Gaucher disease
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LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-11-26T05:56:48Z |
IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice
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LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A. |
| 臺大學術典藏 |
2021-11-26T05:56:47Z |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L. |
| 臺大學術典藏 |
2021-11-26T05:56:44Z |
Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice
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LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H. |
| 臺大學術典藏 |
2021-11-26T05:56:40Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
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LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-11-26T05:56:32Z |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
|
Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H. |
| 臺大學術典藏 |
2021-11-26T05:56:29Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C. |
| 臺大學術典藏 |
2021-11-26T05:56:27Z |
Clinical features of Pompe disease with motor neuronopathy
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LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2021-11-26T05:56:19Z |
Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
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Lee N.-C.; Peng W.-H.; LI-KAI TSAI; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H. |
| 臺大學術典藏 |
2021-10-06T08:04:49Z |
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.; I-JUNG TSAI; 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. |
| 臺大學術典藏 |
2021-10-06T08:04:48Z |
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.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; I-JUNG TSAI; Lee N.-C. |
| 臺大學術典藏 |
2021-10-04T05:53:44Z |
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.; PI-CHUAN FAN; 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. |
| 臺大學術典藏 |
2021-09-17T05:40:57Z |
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter
|
Huang S.-C.; Wu E.-T.; SHUENN-NAN CHIU; Hwu W.-L.; Wu M.-H.; Wang S.-S. |
| 臺大學術典藏 |
2021-09-17T05:40:57Z |
Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease
|
Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H. |
| 臺大學術典藏 |
2021-09-17T05:40:55Z |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
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Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H. |
| 臺大學術典藏 |
2021-09-17T05:40:49Z |
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy
|
Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H. |
| 臺大學術典藏 |
2021-09-14T01:40:06Z |
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.; CHI-NIEN CHEN; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2021-09-02T00:09:13Z |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
|
Kuo C.-W;Hwu W.-L;Chien Y.-H;Hsu C;Hung M.-Z;Lin I.-L;Lai F;Lee N.-C.; Kuo C.-W; Hwu W.-L; Chien Y.-H; Hsu C; Hung M.-Z; Lin I.-L; Lai F; Lee N.-C.; FEI-PEI LAI |
| 臺大學術典藏 |
2021-09-01T01:54:02Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; ANN-LII CHENG; Hsieh F.-J.; Hwu W.-L.; Chang K.-J. |
| 臺大學術典藏 |
2021-08-23T07:09:05Z |
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
|
Weng H.-L.; FENG-JUNG YANG; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-08-23T07:09:04Z |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
|
Weng H.-L.; FENG-JUNG YANG; Chen P.-R.; Hwu W.-L.; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2021-07-06T02:04:01Z |
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.; Yang W.-S.; Hwu W.-L.; PEI-LUNG CHEN; Tsai W.-Y. |
| 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
|
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. |
