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

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

与DNASE1L3基因突变相关的血浆DNA谱:临床观察、与核酸酶底物偏好性的关系以及体内校正

Chan, Rebecca W Y; Serpas, Lee; Ni, Meng; Volpi, Stefano; Hiraki, Linda T; Tam, Lai-Shan; Rashidfarrokhi, Ali; Wong, Priscilla C H; Tam, Lydia H P; Wang, Yueyang; Jiang, Peiyong; Cheng, Alice S H; Peng, Wenlei; Han, Diana S C; Tse, Patty P P; Lau, Pik Ki; Lee, Wing-Shan; Magnasco, Alberto; Buti, Elisa; Sisirak, Vanja; AlMutairi, Nora; Chan, K C Allen; Chiu, Rossa W K; Reizis, Boris; Lo, Y M Dennis

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review

TRNT1基因突变引起的伴有B细胞免疫缺陷、周期性发热和发育迟缓的铁粒幼细胞性贫血的预后因素:病例报告和系统评价

Su, Tzu-Hsuan; Lee, Ni-Chung; Wang, Li-Chieh; Chiang, Bor-Luen; Yu, Hsin-Hui

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan

台湾酸性鞘磷脂酶缺乏症患者的致病变异及奥利普达酶α治疗

Lin, Hsu-Heng; Chen, Hui-An; Lin, Shyh-Jer; Hsu, Rai-Hseng; Lee, Ni-Chung; Hwu, Wuh-Liang; Ni, Yen-Hsuan; Chou, Yen-Yin; Chiu, Pao-Chin; Peng, Steven Shinn-Forng; Chien, Yin-Hsiu

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience

基于全外显子组测序的台湾人群药物基因组学预测——一项真实世界研究

Lin, Hsu-Heng; Tsai, Meng-Ju Melody; Chen, Hui-An; Hsu, Rai-Hseng; Lin, Yun-Syuan; Lin, Yi-Lin; Hsu, Ching; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung

Current clinical applications of AAV-mediated gene therapy

目前AAV介导的基因治疗的临床应用

Byrne, Barry J; Flanigan, Kevin M; Matesanz, Susan E; Finkel, Richard S; Waldrop, Megan A; D'Ambrosio, Eleonora S; Johnson, Nicholas E; Smith, Barbara K; Bönnemann, Carsten; Carrig, Sean; Rossano, Joseph W; Greenberg, Barry; Lalaguna, Laura; Lara-Pezzi, Enrique; Subramony, Sub; Corti, Manuela; Mercado-Rodriguez, Claudia; Leon-Astudillo, Carmen; Ahrens-Nicklas, Rebecca; Bharucha-Goebel, Diana; Gao, Guangping; Gessler, Dominic J; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Boye, Sanford L; Boye, Shannon E; George, Lindsey A

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction

与DNASE1L3基因突变相关的血浆DNA谱:临床观察、与核酸酶底物偏好性的关系以及体内校正

Chan, Rebecca W Y; Serpas, Lee; Ni, Meng; Volpi, Stefano; Hiraki, Linda T; Tam, Lai-Shan; Rashidfarrokhi, Ali; Wong, Priscilla C H; Tam, Lydia H P; Wang, Yueyang; Jiang, Peiyong; Cheng, Alice S H; Peng, Wenlei; Han, Diana S C; Tse, Patty P P; Lau, Pik Ki; Lee, Wing-Shan; Magnasco, Alberto; Buti, Elisa; Sisirak, Vanja; AlMutairi, Nora; Chan, K C Allen; Chiu, Rossa W K; Reizis, Boris; Lo, Y M Dennis

NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish

NDUFB7 突变导致人类和斑马鱼的脑神经元缺陷、乳酸性酸中毒和线粒体功能障碍

Yen-Lin Chen #, Brian Hon-Yin Chung #, Masakazu Mimaki, Shumpei Uchino, Yin-Hsiu Chien, Christopher Chun-Yun Mak, Steven Shinn-Forng Peng, Wei-Chen Wang, Yu-Li Lin, Wuh-Liang Hwu, Shyh-Jye Lee, Ni-Chung Lee3

Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study

台湾儿童噬血细胞性淋巴组织细胞增生症和巨噬细胞活化综合征的病因及长期预后:一项单中心回顾性研究

Wang, Ching-Yu; Lee, Jyh-Hong; Lee, Ni-Chung; Hu, Ya-Chiao; Chang, Hsiu-Hao; Wang, Li-Chieh; Lin, Yu-Tsan; Yang, Yao-Hsu; Chiang, Bor-Luen; Yu, Hsin-Hui

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

PAICS 缺陷的临床谱系不断扩大:对两例同胞病例的综合分析

Weng Wen-Chin, Skopova Vaclava, Baresova Veronika, Liu Yao-Lin, Hsueh Hsueh-Wen, Chien Yin-Hsiu, Hwu Wuh-Liang, Souckova Olga, Hnizda Ales, Kmoch Stanislav, Lee Ni-Chung, Zikanova Marie

Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations

台湾生物库线粒体变异揭示祖先结构和性状关联

Chou, Ting-Hsuan; Chien, Pei-Miao; Chen, Pin-Xuan; Lee, Ni-Chung; Wang, Hurng-Yi; Chang, Yi-Cheng; Chen, Chien-Yu; Chen, Pei-Lung; Hsu, Jacob Shu-Jui