| 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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
