| 臺大學術典藏 |
2021-06-10T07:26:30Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
|
Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-07T07:59:33Z |
Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese
|
Yuan-Td Huang; Yin-Hsiu Chien; Hui-Ying Yeh; Shio-Jean Lin; FRANK LEIGH LU; Shi-Ping Chou; Jing-Meei Lin; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-06-07T07:59:32Z |
Living-Related Liver Transplantation for Metylmalonic Acidemia: Report of One Case
|
Jui-Yu Hsui; Yin-Hsiu Chien; Shao-Yin Chu; FRANK LEIGH LU; Huey-Ling Chen; Ming-Je Ho; Po-Huang Lee; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-05-21T11:40:45Z |
DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms
|
Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host disease
|
YIN-HSIU CHIEN; Lin K.-H.; Lee T.-Y.; Lu M.-Y.; Tsau Y.-K. |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Congenital intracranial teratoma
|
YIN-HSIU CHIEN; Tsao P.-N.; Lee W.-T.; Peng S.-F.; Tsou Yau K.-I. |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one case
|
YIN-HSIU CHIEN; Lee P.-I.; Huang L.-M.; Lee C.-Y.; Lin D.-T.; Lin K.-H. |
| 臺大學術典藏 |
2020-12-24T06:17:24Z |
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant
|
YIN-HSIU CHIEN; Chu S.-Y.; Hsu C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:24Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:23Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:23Z |
Cockayne syndrome in a family
|
YIN-HSIU CHIEN; Chou H.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:22Z |
Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan
|
Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:22Z |
Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease
|
Hwu W.-L.; Lai M.-Y.; YIN-HSIU CHIEN; Hsu C.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:21Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
|
Chiang B.-L.; Chou C.-C.; Hwu W.-L.; Yang Y.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing
|
Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency
|
Chiang S.-C.; Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency
|
Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.; Chiang S.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:19Z |
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
|
YIN-HSIU CHIEN; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L. |
| 臺大學術典藏 |
2020-12-24T06:17:19Z |
Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan
|
YIN-HSIU CHIEN; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:18Z |
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
|
YIN-HSIU CHIEN; Hwu W.L. |
| 臺大學術典藏 |
2020-12-24T06:17:18Z |
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
|
YIN-HSIU CHIEN; Hwu W.L.; Ariga T. |
| 臺大學術典藏 |
2020-12-24T06:17:17Z |
Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case
|
Hwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-24T06:17:17Z |
A step-wise diagnosis of fragile X syndrome in Taiwan
|
Hwu W.-L.; YIN-HSIU CHIEN; Liu C.-H.; Tzeng C.-C.; Chiang S.-C.; Huang Y.-T. |
| 臺大學術典藏 |
2020-12-24T06:17:16Z |
Carbohydrate deficient glycoprotein syndrome type IA
|
Chu K.-L.; YIN-HSIU CHIEN; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:15Z |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
|
Chen C.-A.; YIN-HSIU CHIEN; Hung C.-C.; Chien S.-C.; Lee C.-N.; Su Y.-N. |
