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机构 日期 题名 作者
國立成功大學 2024-12 Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease Li;Chia-Yi;Chen;Li-Wen;Tsai;Meng-Che;Chou;Yen-Yin;Lin;Pei-Xuan;Chang;Yu-Ming;Hwu;Wuh-Liang;Chien;Yin-Hsiu;Lin;Ju-Li;Chen;Hui-An;Lee;Ni-Chung;Su;Pen-Hua;Hsieh;Tzung-Chien;Klinkhammer;Hannah;Wang;Yi-Chieh;Huang;Yi-Ting;Krawitz;Peter, M.;Lin;Sheng-Hsiang;Huang;Lynn, Lynn L. H.;Chiang;Po-Min;Shih;Min-Hsiu;Chen;Peng-Chieh
國立成功大學 2024-11 Cytoplasmic Lipid Droplets Predict Worse Prognosis in Diffuse Large B-Cell Lymphoma Wang;Shu-Hsien;Chiang;Po-Min;Su;Yung-Yeh;Yu;Yu-Ting;Chen;Ya-Ping;Chen;Tsai-Yun;Medeiros;Jeffrey, L.;Chu;Chang-Yao;Chen;Peng-Chieh;Chang;Kung-Chao
國立成功大學 2024-07 Profibrotic Subsets of SPP1++ Macrophages and POSTN plus plus Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis Hong;Yi-Kai;Hwang;Daw-Yang;Yang;Chao-Chun;Cheng;Muk, Siao;Chen;Peng-Chieh;Aala;Wilson;Jr;Harn;-Chen, Hans I.;Evans;Spencer, T.;Onoufriadis;Alexandros;Liu;Si-Lin;Lin;Yu-Chen;Chang;Yi-Han;Lo;Tzu-Kun;Hung;Kuo-Shu;Lee;Yi-Chao;Tang;Ming-Jer;Lu;Kurt, Q.;Mcgrath;John, A.;Hsu;Chao-Kai
國立成功大學 2024-06 Functional validation of a novel PBX1 missense variant in a girl with XY sex reversal Tsai;Meng-Che;Weng;Yun-Han;Wang;Yi-Chieh;Chou;Yen-Yin;Chen;Peng-Chieh
國立成功大學 2024-05-15 Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin Aala;Wilson, Jr F.;Hou;Ping-Chen;Hong;Yi-Kai;Lin;Yu-Chen;Lee;Yu-Rong;Tu;Wei-Ting;Papanikolaou;Marieta;Benzian-Olsson;Natashia;Onoufriadis;Alexandros;Harn;Hans, I-Chen;Hwang;Daw-Yang;Cheng;Muk, Siao;Lu;Kurt;Chen;Peng-Chieh;McGrath;John, A.;Hsu;Chao-Kai
國立成功大學 2024-04-26 Syndromic ciliopathy: a taiwanese single-center study Pan;Yu-Wen;Ou;Tsung-Ying;Chou;Yen-Yin;Kuo;Pao-Lin;Hsiao;Hui-Pin;Chiu;Pao-Chin;Lin;Ju-Li;Lo;Fu-Sung;Wang;Chung-Hsing;Chen;Peng-Chieh;Tsai;Meng-Che
國立成功大學 2023-12 Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment Hsieh;Chu-Han;Lee;Ju;Sung;Hsiang-Hsuan;Huang;Ya-Fang;Ding;Yu-Sian;Li;Chia-Yi;Yen;Chia-Liang;Hsu;Chao-Kai;Yu;Chun-Keung;Hsieh;Hsin-Ying;Hughes;Warren, Michael;Chen;Peng-Chieh;Shieh;Chi-Chang
國立成功大學 2023-02 Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients Tsai;Meng-Che;Weng;Yun-Han;Lin;Yu-Fang;Wang;Yi-Chieh;Yu;Hui-Wen;Chou;Yen-Yin;Chen;Peng-Chieh
國立成功大學 2022-12-28 Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients Tu;Wei-Ting;Hou;Ping-Chen;Chen;Peng-Chieh;Chen;Wan-Rung;Huang;Hsin-Yu;Wang;Jing-Yu;Huang;Yi-Ting;Wu;Yi-Huei;Su;Chun-Lin;Tang;Yen-An;Iwata;Hiroaki;Natsuga;Ken;Chao;Sheau-Chiou;Sun;Sunny, H.;Tang;Ming-Jer;Lee;Julia, Yu-Yun;McGrath;John, A. A.;Hsu;Chao-Kai
國立成功大學 2022-08 Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies Lin;Yu-Chen;Tu;Wei-Ting;Hou;Ping-Chen;Huang;Hsin-Yu;Chen;Peng-Chieh;Chang;Chung-Hsing;Lee;Julia, Yu-Yun;McGrath;John, A.;Hsu;Chao-Kai
國立成功大學 2022-05-27 RNA bisulfite sequencing reveals NSUN2-mediated suppression of epithelial differentiation in pancreatic cancer Chen;Szu-Ying;Chen;Kuan-Lin;Ding;Li-Yun;Yu;Chien-Hung;Wu;Hsin-Yi;Chou;Ya-Yi;Chang;Chia-Jung;Chang;Chih-Han;Wu;Ya-Na;Wu;Shang-Rung;Hou;Ya-Chin;Lee;Chung-Ta;Chen;Peng-Chieh;Shan;Yan-Shen;Huang;Po-Hsien
國立成功大學 2021-09-7 NOX2-Deficient Neutrophils Facilitate Joint Inflammation Through Higher Pro-Inflammatory and Weakened Immune Checkpoint Activities Liao;Yi-Chu;Wu;Szu-Yu;Huang;Ya-Fang;Lo;Pei-Chi;Chan;Tzu-Yi;Chen;Chih-An;Wu;Chun-Hsin;Hsu;Che-Chia;Yen;Chia-Liang;Chen;Peng-Chieh;Shieh;Chi-Chang
國立成功大學 2021-07-28 New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies Tsai;Meng-Che;Chou;Yen-Yin;Li;Chia-Yi;Wang;Yi-Chieh;Yu;Hui-Wen;Chen;Chia-Hsiang;Chen;Peng-Chieh
國立成功大學 2021-03 A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa Hou;Ping-Chen;Tu;Wei-Ting;Chen;Peng-Chieh;Guevara;Bryan, Edgar K.;Yen;Yu-Fen;Huang;Hsin-Yu;Lee;Julia, Yu-Yun;Tang;Ming-Jer;Kuo;Pao-Lin;McGrath;John, A.;Hsu;Chao-Kai
國立成功大學 2021-03 FGF primes angioblast formation by inducing ETV2 and LMO2 via FGFR1/BRAF/MEK/ERK Chen;Peng-Chieh;Hsueh;Ya-Wen;Lee;Yi-Hsuan;Tsai;Hung-Wen;Tsai;Kuen-Jer;Chiang;Po-Min
國立成功大學 2020-06 Probiotics-Containing Yogurt Ingestion and H. pylori Eradication Can Restore Fecal Faecalibacterium prausnitzii Dysbiosis in H. pylori-Infected Children Yang;Yao-Jong;Chen;Peng-Chieh;Lai;Fu-Ping;Tsai;Pei-Jane;Sheu;Bor-Shyang
國立成功大學 2020-02 A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing Liao;Cheng-Yu;Yu;Hui-Wen;Cheng;Chao-Neng;Chen;Jiann-Shiuh;Lin;Ching-Wei;Chen;Peng-Chieh;Shieh;Chi-Chang
國立成功大學 2018-04-18 Rare Compound Heterozygous Frameshift Mutations in &ITALMS1&IT Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alstrom Syndrome Tsai;Meng-Che;Yu;Hui-Wen;Liu;Tsunglin;Chou;Yen-Yin;Chiou;Yuan-Yow;Chen;Peng-Chieh
淡江大學 2014 台灣半導體相關產業在美國量化寬鬆貨幣政策期間之經營績效非線性探討 彭杰; Peng, Chieh

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