| 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
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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. |
