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11-20 trong số 129 kết quả
The Omicron variant BA.2.86.1 of SARS- CoV-2 demonstrates an altered interaction network and dynamic features to enhance the interaction with the hACE2
Tác giả: Taimur Khan, Muhammad Shahab, Ahmad M Alharbi, Muhammad Waqas, Zakirullah, Guojun Zheng
Xuất bản: England: Scientific reports , 2025
Bộ sưu tập: NCBI
ddc:  597.7388
 
A variant in HMMR/HMMR-AS1 is associated with serum alanine aminotransferase levels in the Ryukyu population
Tác giả: Noriko Ohyama, Masatoshi Matsunami, Minako Imamura, Akihiro Yoshida, Azeem Javed, Xiaoxi Liu, Ryosuke Kimura, Koichi Matsuda, Chikashi Terao, Shiro Maeda
Xuất bản: England: Scientific reports , 2025
Bộ sưu tập: NCBI
ddc:  617.523
 
MTHFR variant links homocysteine metabolism and endothelial cell dysfunction by targeting mitophagy in human thoracic aortic dissection patient induced pluripotent stem cell (iPSC) models
Tác giả: You Yu, Yihuan Chen, Xingyou Guo, Shijun Hu, Lianbo Shao, Han Shen, Zhenya Shen, Xiaomei Teng, Miao Yu, Meng Zhang, Jingze Zhu
Xuất bản: Egypt: Journal of advanced research , 2025
Bộ sưu tập: NCBI
ddc:  307.3362
 
Trio whole exome sequencing in Chinese childhood-onset lupus reveals novel candidate genes
Tác giả: Jianyang Ma, T Daniel Andrews, Todor Arsov, Lanfang Cao, Huihua Ding, Yuke He, Soon-Min Hong, Guojun Hou, Yuting Qin, Nan Shen, Qian Shen, Jingjing Tan, Carola G Vinuesa, Thuvaraka Ware, Philip Wu, Xiaoqian Wu, Chengmei Xie, Pingjing Zhang
Xuất bản: United States: Arthritis & rheumatology (Hoboken, N.J , 2025
Bộ sưu tập: NCBI
ddc:  978.02
 
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders
Tác giả: Anthony C T Cheung, Catherine Argyriou, Eric Bareke, Nancy Braverman, Erminia Di Pietro, Yasmin D'Souza, Rebecca Ganetzky, Amy Goldstein, Jacek Majewski, Shruthi Mohan, P Muhammed Shabeer, Ratna Dua Puri, Adeline Vanderver, Christine Yergeau
Xuất bản: United States: Molecular genetics and metabolism , 2025
Bộ sưu tập: NCBI
ddc:  978.02
 
Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma
Tác giả: Xingyuan Jiang, Ryland D Mortlock, Ivan B Lomakin, Jing Zhou, Ronghua Hu, María Laura Cossio, Christopher G Bunick, Keith A Choate
Xuất bản: England: The British journal of dermatology , 2025
Bộ sưu tập: NCBI
ddc:  611.01816
 
A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation
Tác giả: Ryota Sugawara, Keisuke Hamada, Hidenori Ito, Marcello Scala, Hiroshi Ueda, Hidenori Tabata, Kazuhiro Ogata, Koh-Ichi Nagata
Xuất bản: United States: The Journal of biological chemistry , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families
Tác giả: Jingping Li, Lingyun Zhang, Fangfang Xi, Chuanping Lin, Qitao Zhan, Qing Zhou, Shi Zheng, Weikang Chen, Fan Jin
Xuất bản: England: Human genomics , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development
Tác giả: Xin Yang, Qiuye Wang, Yayun Gu, Bijun Zhao, Shen Yue, Zhibin Hu, Tianyuan Li, Yan Zhou, Jimiao Gao, Wanting Ma, Na Zhao, Xinyue Liu, Zihe Ai, Steven Y Cheng
Xuất bản: United States: The Journal of biological chemistry , 2025
Bộ sưu tập: NCBI
ddc:  641.462
 
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative s...
Tác giả: Yanjun Wang, Jingjing Wang, Shufang Xiao, Chengjun Deng, Li Li, Weihua Shou, Xingxing Feng, Nana Zhai, Qian Han, Xishu Deng, Bin Li
Xuất bản: Netherlands: Clinica chimica acta; international journal of clinical chemistry , 2025
Bộ sưu tập: NCBI
ddc:  636.0885
 

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