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Showing results 1 to 14 of 14

Publication Year	Title	Author(s)	Department
2023	人類免疫相關疾病研究中擬人化 B2M 小鼠模式之表徵與可行性 Characterization and Feasibility of Humanized B2M Mice Model for the Study of Human Immune-related Diseases	許慈恩; Tsz-En Shiu	基因體暨蛋白體醫學研究所
2024	以次世代定序尋找家族性非髓質型甲狀腺癌致病基因 Using Next-Generation Sequencing to Identify Causative Genes of Familial Non-Medullary Thyroid Cancer	沈淑華; Shu-Hua Shen	分子醫學研究所
2019	利用次世代定序進行困難疾病之基因檢測，以先天性腎上腺增生症及神經纖維瘤症第一型為例 Next-generation sequencing (NGS)-based genetic testing of difficult diseases: Congenital adrenal hyperplasia and neurofibromatosis type 1 as examples	Yu-Shan Huang; 黃于珊	分子醫學研究所
2024	台灣先天性巨大結腸症之基因研究 Genetic study for Taiwan’s Hirschsprung’s Disease	楊曉文; Wendy Yang	臨床醫學研究所
2014	應用次世代定序技術建立遺傳性耳聾基因檢測平台 Application of Next Generation Sequencing to Establish the Genetic Testing Platform for Hereditary Hearing Impairment	Yin-Hung Lin; 林盈宏	分子醫學研究所
2018	應用次世代定序技術進行遺傳性聽力缺損之基因診斷 Genetic Diagnosis of Hereditary Hearing Impairment via Next-generation Sequencing	Yin-Hung Lin; 林盈宏	基因體暨蛋白體醫學研究所
2018	應用次世代定序技術鑑定人類白血球表面抗原基因型 HLA Typing Using Capture-based Next-generation Sequencing	Sheng-Kai Lai; 賴勝凱	分子醫學研究所
2025	探討結節性硬化症與淋巴血管平滑肌增生症之基因型與表型特徵 Exploring the Genotypic and Phenotypic Characteristics of Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis	何晏寧; Yen-Ning Ho	分子醫學研究所
2022	擬人化CD8小鼠以及擬人化CD4小鼠之表徵分析 Characterization of humanized CD4 mouse and humanized CD8 mouse	甘嘉敏; Ka-Man Kam	基因體暨蛋白體醫學研究所
2025	次世代定序技術於台灣與蒙古聽損基因研究之應用與發現 Application and discovery of next-generation sequencing in hearing loss gene research in Taiwan and Mongolia	呂育璇; Yue-Sheng Lu	分子醫學研究所
2024	次世代定序資料重新分析以釐清 TSC1 及 TSC2 基因變異位點之致病性 Reanalysis of next-generation sequencing (NGS) data to clarify the pathogenicity of variants in TSC1 and TSC2	陳韻如; Yun-Ru Chen	分子醫學研究所
2025	胸主動脈瘤與剝離症侯群的系統性基因分析及結構變異檢測算法在單一或組合策略下的性能比較 Systemic Genetic Analysis for Thoracic Aortic Aneurysm and Dissection (TAAD) and Comparison of Performances of Structural Variants Detection Algorithms in Solitary or Combination Strategy	段德敏; De-Min Duan	基因體暨蛋白體醫學研究所
2025	自然殺手細胞類免疫球蛋白受體基因群的基因多樣性與結構複雜性：人類泛基因體組裝序列的詳盡分析 Genetic Diversity and Structural Complexity of the Killer-Cell Immunoglobulin-Like Receptor Gene Complex: A Comprehensive Analysis Using Human Pangenome Assemblies	洪崇凱; Tsung-Kai Hung	基因體暨蛋白體醫學研究所
2023	評估結節硬化症患者 Everolimus 的使用情形和藥物基因體學研究 Evaluate the utilization and pharmacogenomics of everolimus in patients with tuberous sclerosis complex.	彭郁婷; Yu-Ting Peng	分子醫學研究所

Showing results 1 to 14 of 14