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機構	日期	題名	作者
臺大學術典藏	2021-02-04T06:46:28Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.; Tung Y.-C.; Hwu W.-L.; JIN-CHUNG SHIH; Lin W.-H.; Wu M.-Z.; 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.
臺大學術典藏	2021-02-02T02:22:18Z	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.; Wu M.-Z.; Liu K.-L.; MING-SHIANG WU
臺大學術典藏	2021-01-27T01:38:18Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; CHIA-LI YU
臺大學術典藏	2021-01-21T02:05:00Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; CHIEN-YI CHEN; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C.
臺大學術典藏	2021-01-11T07:19:42Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Tsai W.-Y.; Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; SHIH-YAO LIU; Lee C.-T.; Shih-Yao Liu;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.
臺大學術典藏	2021-01-11T07:19:40Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2021-01-08T07:28:13Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.;Cheng-Ting Lee;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; CHENG-TING LEE; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏	2021-01-08T07:28:13Z	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Hwu W.-L.; Lee N.-C.; Chien C.-C.; Lin C.-H.;Chien Y.-H.;Peng S.-F.;Tsai W.-Y.;Tung Y.-C.;Cheng-Ting Lee;Chien C.-C.;Hwu W.-L.;Lee N.-C.; Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; CHENG-TING LEE
臺大學術典藏	2021-01-08T07:28:12Z	SHOX deficiency in short Taiwanese children: A single-center experience	Tung Y.-C.;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Cheng-Ting Lee;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; CHENG-TING LEE; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏	2021-01-08T07:28:12Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Cheng-Ting Lee;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;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.; CHENG-TING LEE; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; 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.
臺大學術典藏	2021-01-08T07:28:11Z	Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center	Liu M.-Y.;Cheng-Ting Lee;Lee N.-C.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu M.-Y.; CHENG-TING LEE; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏	2021-01-08T06:17:26Z	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	Wang S.Y.; YI-CHING TUNG; Tsai W.Y.; Chien Y.H.; Lee J.S.; Hwu W.L.
臺大學術典藏	2021-01-08T06:17:23Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2021-01-08T06:17:20Z	Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan	Tsai W.-Y.; Chen P.-L.; Hwu W.-L.; Yang W.-S.; Chu C.-C.; Chang C.-C.; Fann C.S.-J.; YI-CHING TUNG; Yi-Ching Tung;Fann C.S.-J.;Chang C.-C.;Chu C.-C.;Yang W.-S.;Hwu W.-L.;Chen P.-L.;Tsai W.-Y.
臺大學術典藏	2021-01-08T06:17:20Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.;Lee C.-T.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏	2021-01-08T06:17:19Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.;Yi-Ching Tung;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;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.; YI-CHING TUNG; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; 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.
臺大學術典藏	2021-01-08T06:17:19Z	SHOX deficiency in short Taiwanese children: A single-center experience	Yi-Ching Tung;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; YI-CHING TUNG; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏	2021-01-07T06:09:28Z	Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area	Lee C.?Y.; Kao C.?L.; Hwu W.?L.; Chang M.?H.; PING-ING LEE
臺大學術典藏	2021-01-06T08:24:03Z	Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings	YAO-HSU YANG; Chien Y.-H.; Chien Y.-H.;Yao-Hsu Yang;Hwu W.-L.;Chou C.-C.;Chiang B.-L.; Hwu W.-L.; Chou C.-C.; Chiang B.-L.
臺大學術典藏	2021-01-06T08:23:40Z	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. ;Chiang B.-L. ;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. ;Yao-Hsu Yang ;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.; 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.; Chiang B.-L.; 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.; YAO-HSU YANG; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.
臺大學術典藏	2021-01-06T08:23:25Z	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.;Yao-Hsu Yang;Hwu W.-L.;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; YAO-HSU YANG; Hwu W.-L.; Chiang B.-L.
臺大學術典藏	2021-01-06T06:51:53Z	Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation	Tang N.L.S.; CHUN-AN CHEN; Chun-An Chen;Tang N.L.S.;Chen Y.-H.;Zhang W.-M.;Wang J.-K.;Hwu W.-L.; Chen Y.-H.; Zhang W.-M.; Wang J.-K.; Hwu W.-L.
臺大學術典藏	2021-01-06T06:51:49Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chun-An Chen;Chiu S.-N.;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.; CHUN-AN CHEN; Chiu S.-N.; Chien Y.-H.
臺大學術典藏	2021-01-06T06:51:46Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chun-An Chen;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; CHUN-AN CHEN; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.
臺大學術典藏	2021-01-06T06:51:44Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Wu M.-H.; Chiu H.-H.; Chiu S.-N.; Lin M.-T.; Lu C.-W.; Chen L.-R.; Wang J.-K.; Chun-An Chen ;Chien Y.-H. ;Hwu W.-L. ;Lee N.-C. ;Wang J.-K. ;Chen L.-R. ;Lu C.-W. ;Lin M.-T. ;Chiu S.-N. ;Chiu H.-H. ;Wu M.-H.; CHUN-AN CHEN; Chien Y.-H.; Hwu W.-L.; Lee N.-C.

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