| 臺大學術典藏 |
2021-09-14T23:19:08Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
|
Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; YIN-HSIU CHIEN; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C.; Lin, Hsiang Yu; Lin, Shuan Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella |
| 臺大學術典藏 |
2021-07-15T05:31:28Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-07-14T03:36:13Z |
The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling
|
DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-06-10T07:29:35Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN; Huang, Pei-Hsin; Yang, Chih-Chao |
| 臺大學術典藏 |
2021-06-10T07:27:58Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Weng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN |
| 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. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3
|
Lin L.-K.; YIN-HSIU CHIEN; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
Peng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Plasma chitotriosidase activity and malaria (multiple letters)
|
Musumeci S.; Hwu W.-L.; YIN-HSIU CHIEN; Chen J.-H. |
| 臺大學術典藏 |
2020-12-24T06:17:13Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.; YIN-HSIU CHIEN; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:13Z |
Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case report
|
YIN-HSIU CHIEN; Liang D.-C.; Wu J.-Y.; Huang L.-H.; Ho T.-Y.; Shyur S.-D.; Ma Y.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:12Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
Kobayashi K.; YIN-HSIU CHIEN; Lee N.-C.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:12Z |
Tandem mass neonatal screening in Taiwan - Report from one center
|
Huang H.-P.; Chu K.-L.; YIN-HSIU CHIEN; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:11Z |
Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand...
|
Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN; Ralston E.; Nagaraju K.; Plotz P.H. |
| 臺大學術典藏 |
2020-12-24T06:17:11Z |
Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
|
Wraith J.E.; Chen Y.T.; Worden M.A.; Davison M.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; Hwu W.L.; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D. |
| 臺大學術典藏 |
2020-12-24T06:17:11Z |
Identification of variations in the human phosphoinositide 3-kinase p110δ gene in children with primary B-cell immunodeficiency of unknown aetiology
|
Jou S.-T.; YIN-HSIU CHIEN; Yang Y.-H.; Wang T.-C.; Shyur S.-D.; Chou C.-C.; Chang M.-L.; Lin D.-T.; Lin K.-H.; Chiang B.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:10Z |
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
|
Lee N.C.; Lin C.Y.; Law L.K.; Tang N.L.; YIN-HSIU CHIEN; Hwu W.L. |
| 臺大學術典藏 |
2020-12-24T06:17:10Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
Wang C.-C.; Chen Y.-W.; Wu E.-T.; YIN-HSIU CHIEN; Hwu W.-L.; Ko W.-J.; Huang S.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:09Z |
A promoter sequence variant of ZNF750 is linked with familial psoriasis
|
Chen Y.-T.; Fann C.S.J.; Liao F.; Tsai P.-J.; Chen H.-C.; Hung C.-F.; YIN-HSIU CHIEN; Chung W.-H.; Yang L.-C.; Hwu W.-L.; Yang C.-F. |
| 臺大學術典藏 |
2020-12-24T06:17:09Z |
A review of treatment of pompe disease in infants
|
Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:09Z |
The genetics of atopic dermatitis
|
YIN-HSIU CHIEN; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:09Z |
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan
|
Chang K.-W.; YIN-HSIU CHIEN; Huang J.-L.; Jaing T.-H.; Lee W.-I.; Yang C.-Y. |
| 臺大學術典藏 |
2020-12-24T06:17:09Z |
The design and implementation of a next generation information system for newborn screening
|
Tu C.-M.; Tang M.-Y.; Chang H.-Y.; Hwu W.-L.; YIN-HSIU CHIEN; Lai F. |
| 臺大學術典藏 |
2020-12-24T06:17:08Z |
Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence
|
Ralston E.; Swaim B.; Czapiga M.; Hwu W.-L.; YIN-HSIU CHIEN; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N. |
| 臺大學術典藏 |
2020-12-24T06:17:08Z |
Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan
|
YIN-HSIU CHIEN; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L. |
