每年研究成果
每年研究成果
- 6結果
搜尋結果
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2022
Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Lee, Y. R., Lin, Y. C., Chang, Y. H., Huang, H. Y., Hong, Y. K., Aala, W. J. F., Tu, W. T., Tsai, M. C., Chou, Y. Y. & Hsu, C. K., 2022 4月 8, 於: Frontiers in Genetics. 13, 848879.研究成果: Article › 同行評審
開啟存取 -
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
Tu, W. T., Hou, P. C., Chen, P. C., Chen, W. R., Huang, H. Y., Wang, J. Y., Huang, Y. T., Wu, Y. H., Su, C. L., Tang, Y. A., Iwata, H., Natsuga, K., Chao, S. C., Sun, H. S., Tang, M. J., Lee, J. Y. Y., McGrath, J. A. & Hsu, C. K., 2022 12月, 於: Orphanet Journal of Rare Diseases. 17, 1, 451.研究成果: Article › 同行評審
開啟存取 -
Taiwanese dermatological association consensus for the definition, classification, diagnosis, and management of urticaria: A 2021 update
Cho, Y. T., Chan, T. C., Lee, C. H., Chou, W. Y., Hsiao, P. F., Chen, Y. J., Wu, P. Y., Yang, C. W., Chiu, T. M., Chang, Y. T., Wang, W. M., Hong, C. H., Tu, W. T., Huang, Y. H., Tsai, T. F., Lan, C. C. & Chu, C. Y., 2022 7月, 於: Journal of the Formosan Medical Association. 121, 7, p. 1191-1203 13 p.研究成果: Article › 同行評審
開啟存取1 引文 斯高帕斯（Scopus） -
2020
Plectin missense mutation p.Leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex
Tu, W. T., Chen, P. C., Hou, P. C., Huang, H. Y., Wang, J. Y., Chao, S. C., Lee, J. Y. Y., McGrath, J. A., Natsuga, K. & Hsu, C. K., 2020 8月, 於: Acta Dermato-Venereologica. 100, 15, p. 1-2 2 p., adv00242.研究成果: Article › 同行評審
開啟存取5 引文 斯高帕斯（Scopus） -
2019
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica
Onoufriadis, A., Hsu, C. K., Eide, C. R., Nanda, A., Orchard, G. E., Tomita, K., Sheriff, A., Scott, W., Tierney, C., Lee, J. Y. W., Gomaa, N. S., Desomchoke, R., Lwin, S. M., Tu, W. T., Chen, L. Y., Huang, H. Y., Chao, S. C., Yu-Yun Lee, J., Bare, Y., Hayday, T., 及其他12, 2019 12月, 於: Journal of Investigative Dermatology. 139, 12, p. 2550-2554.e9研究成果: Article › 同行評審
開啟存取9 引文 斯高帕斯（Scopus） -
2018
Utility of Gram staining for diagnosis of Malassezia folliculitis
Tu, W. T., Chin, S. Y., Chou, C. L., Hsu, C. Y., Chen, Y. T., Liu, D., Lee, W. R. & Shih, Y. H., 2018 2月, 於: Journal of Dermatology. 45, 2, p. 228-231 4 p.研究成果: Article › 同行評審
11 引文 斯高帕斯（Scopus）