Search Results - Shang Yi

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome by Qi Yang, Qi Yang, Di Gong, Shang Yi, Shang Yi, Jingsi Luo, Jingsi Luo, Qinle Zhang, Qinle Zhang, Qinle Zhang

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A novel variant in NSUN2 causes intellectual disability in a Chinese family by Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

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Preparation of ultrasound microbubbles crosslinked to albumin nanoparticles packaged with tissue-type plasminogen activator gene plasmid and method of in vivo transfection by Jun J, Shang-Yi J, Xia H, Wen-Ping L

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Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene by Qiang Zhang, Qi Yang, Xunzhao Zhou, Zailong Qin, Shang Yi, Jingsi Luo

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Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing by Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo

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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature by Qiang Zhang, Zailong Qin, Shang Yi, Hao Wei, Xun Zhao Zhou, Jiasun Su

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Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 v... by Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

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The Different Cardiovascular Outcomes Between Long-Term Efficacy of Hydrophilic and Lipophilic Statin Therapy in Both Asian Diabetic Sexes by Shang-Yi Li, Hsin-Hung Chen, Cheng-Li Lin, Su-Yin Yeh, Chia-Hung Kao

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Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review by Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang, Jingsi Luo

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A Role for Sigma Receptors in Stimulant Self Administration and Addiction by Shang-Yi Tsai, Theresa Kopajtic, Takato Hiranita, Teruo Hayashi, Gianluigi Tanda, Jonathan L. Katz, Tsung-Ping Su

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Noninvasive Prenatal Testing Using Fetal Fraction Enrichment-A Pilot Study by Yun Chen, Yunli Lai, Jian Yi, Shang Yi, Xiaoshan Huang, Yanqing Tang, Jiasun Su, Yiping Shen, Hongwei Wei

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A novel variant of IHH in a Chinese family with brachydactyly type 1 by Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li, Yiping Shen

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Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China by Sheng He, Dongming Li, Shang Yi, Xiuning Huang, Chaofan Zhou, Biyan Chen, Yangjin Zuo, Li Lin, Faqin Chen, Hongwei Wei

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Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients by Qi Yang, Qi Yang, Xunzhao Zhou, Xunzhao Zhou, Sheng Yi, Sheng Yi, XiaoLing Li, Qiang Zhang, Qiang Zhang, Shujie Zhang, Shujie Zhang, Li Lin, Li Lin, Shang Yi, Shang Yi, Biyan Chen, Biyan Chen, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo

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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5 by Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

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Bortezomib therapy in a real-world setting in patients with relapsed or refractory multiple myeloma by Shang-Yi Huang, Tsai-Yun Chen, Ching-Yuan Kuo, Yeu-Chin Chen, Sheng-Fung Lin, Ming-Chih Chang, Xinzhu Lv, Betty Yang, Cheng-Shyong Chang

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Boosting the detection performance of severe acute respiratory syndrome coronavirus 2 test through a sensitive optical biosensor with new superior antibody by Chih‐Yen Lin, Wen‐Hung Wang, Meng‐Chi Li, Yu‐Ting Lin, Zih‐Syuan Yang, Aspiro Nayim Urbina, Wanchai Assavalapsakul, Arunee Thitithanyanont, Kai‐Ren Chen, Chien‐Cheng Kuo, Yu‐Xen Lin, Hui‐Hua Hsiao, Kun‐Der Lin, Shang‐Yi Lin, Yen‐Hsu Chen, Ming‐Lung Yu, Li‐Chen Su, Sheng‐Fan Wang

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