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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
臺大學術典藏 2021-11-26T05:56:27Z Clinical features of Pompe disease with motor neuronopathy 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 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 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.

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