日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study

利用靶向基因组测序筛查新生儿听力障碍:一项大型试点队列研究

Lin, Pei-Hsuan; Chiang, Yu-Ting; Tsai, Cheng-Yu; Chu, Chia-Huei; Hung, Chia-Cheng; Su, Yi-Ning; Hsu, Wei-Chung; Liu, Tien-Chen; Hsu, Chuan-Jen; Tsao, Po-Nien; Wu, Chen-Chi

The effects of a Journey of the Brave Counseling Program on anxiety, well-being, and life adjustment in Taiwanese children

“勇敢之旅”辅导计划对台湾儿童焦虑、幸福感和生活适应的影响

Tien, Hsiu-Lan Shelley; Su, Yi-Ning; Zhang, Aizi; Kaichi, Isana; Koshiba, Takako; Okawa, Sho; Urao, Yuko; Shimizu, Eiji

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

16号染色体短臂拷贝数变异胎儿的临床结局

Kang, Jessica; Lee, Chien-Nan; Su, Yi-Ning; Tai, Yi-Yun; Chen, Chih-Ling; Chen, Han-Ying; Lin, Shin-Yu

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan

台湾先天性肌营养不良症的二线诊断方法:综合靶向捕获/二代测序

Liang, Wen-Chen; Tian, Xia; Yuo, Chung-Yee; Chen, Wan-Zi; Kan, Tsu-Min; Su, Yi-Ning; Nishino, Ichizo; Wong, Lee-Jun C; Jong, Yuh-Jyh

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

台湾成骨不全患者的基因型和表型分析

Lin, Hsiang-Yu; Chuang, Chih-Kuang; Su, Yi-Ning; Chen, Ming-Ren; Chiu, Hui-Chin; Niu, Dau-Ming; Lin, Shuan-Pei

Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations

利用变性高效液相色谱法高效检测台湾B型血友病患者的IX因子突变,并鉴定出两种新的突变

Lin, Pei-Chin; Su, Yi-Ning; Liao, Yu-Mei; Chang, Tai-Tsung; Tsai, Shih-Pien; Shu, Hsiu-Lan; Chiou, Shyh-Shin

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B

与肢带型肌营养不良症1B相关的心源性栓塞性卒中

Chen, Chih-Hao; Tang, Sung-Chun; Su, Yi-Ning; Yang, Chih-Chao; Jeng, Jiann-Shing

IKZF1 deletions predict a poor prognosis in children with B-cell progenitor acute lymphoblastic leukemia: a multicenter analysis in Taiwan

台湾一项多中心分析显示,IKZF1基因缺失预示着B细胞祖细胞急性淋巴细胞白血病患儿预后不良。

Yang, Yung-Li; Hung, Chia-Cheng; Chen, Jiann-Shiuh; Lin, Kai-Hsin; Jou, Shiann-Tarng; Hsiao, Chih-Cheng; Sheen, Jiunn-Ming; Cheng, Chao-Neng; Wu, Kang-Hsi; Lin, Shu-Rung; Yu, Sung-Liang; Chen, Hsuan-Yu; Lu, Meng-Yao; Wang, Shih-Chung; Chang, Hsiu-Hao; Lin, Shu-Wha; Su, Yi-Ning; Lin, Dong-Tsamn

The Taiwan Birth Panel Study: a prospective cohort study for environmentally- related child health

台湾出生队列研究:一项关于环境相关儿童健康的前瞻性队列研究

Hsieh, Chia-Jung; Hsieh, Wu-Shiun; Su, Yi-Ning; Liao, Hua-Fang; Jeng, Suh-Fang; Taso, Feng-Ming; Hwang, Yaw-Huei; Wu, Kuen-Yuh; Chen, Chia-Yang; Guo, Yueliang Leon; Chen, Pau-Chung

An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

基因疾病、染色体易位和非整倍体筛查中植入前遗传学诊断的最新进展

Chang, Li-Jung; Chen, Shee-Uan; Tsai, Yi-Yi; Hung, Chia-Cheng; Fang, Mei-Ya; Su, Yi-Ning; Yang, Yu-Shih