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81-90 trong số 134 kết quả
The HBV variant CpF97L supports the secretion of pgRNA-containing virions at a level much greater than WT HBV
Tác giả: Abena Adomah Kissi-Twum, Daniel D Loeb, Karolyn Pionek
Xuất bản: United States: Journal of virology , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
OGG1S326C variant frequent in human populations facilitates inflammatory responses due to its extended interaction with DNA substrate
Tác giả: Jinling Han, Xueqing Ba, Istvan Boldogh, Zixu Cui, Jiakun Ge, Yinchao Hu, Zhihua Ji, Chunshuang Li, Xining Li, Yusaku Nakabeppu, Zsolt Radak, Miaomiao Tian, Dapeng Wang, Jing Wang, Min Wei, Yaoyao Xue, Meichen Zhang, Haiwang Zhao, Jianyi Zhao, Xu Zheng
Xuất bản: United States: Proceedings of the National Academy of Sciences of the United States of America , 2025
Bộ sưu tập: NCBI
ddc:  398.353
 
Vascular-variant cardiac amyloid: Cardiac MRI and histopathological appearances
Tác giả: Sebastian Flynn, Jonathan D Dodd, Aurelie Fabre, Kamal Fadalla
Xuất bản: England: Acta radiologica open , 2025
Bộ sưu tập: NCBI
ddc:  150.194
 
The ALPL gene variant project: results of the first 100 reclassified variants
Tác giả: Mariam R Farman, Francesca Barbazza, Kathryn Dahir, Guillermo Del Angel, Jessica Ebner-Jahn, Ahmed El-Gazzar, Florian Högler, Wolfgang Högler, Erin Huggins, Priya S Kishnani, Agnès Linglart, Theodora Malli, Gabriel Á Martos-Moreno, Erica B Nading, Keiichi Ozono, Catherine Rehder, Cheryl Rockman-Greenberg, Eric T Rush, Lothar Seefried, Sara Shojaei, Josephine T Tauer, Gerald Webersinke
Xuất bản: England: JBMR plus , 2025
Bộ sưu tập: NCBI
ddc:  572.865
 
Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss
Tác giả: Sonia M Scaria, Jacqueline Harris, Noura Ismail Mohamad, Emily Taketa, Yesai Park, Dylan K Chan
Xuất bản: United States: Ear and hearing , 2025
Bộ sưu tập: NCBI
ddc:  037.811
 
A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans
Tác giả: Jie Ping, Xinyi Liu, Shunqi Chen, Lingle Chang, Yuqing Jiang, Qilin Huang, Jie Liu, Tana Wuren, Huifang Liu, Ying Hao, Longli Kang, Guanjun Liu, Yiming Lu, Hui Lu, Xiaojun Wei, Yuting Wang, Yuanfeng Li, Hao Guo, Yongquan Cui, Haoxiang Zhang, Yang Zhang, Yujia Zhai, Yaoxi He, Cheng Quan, Wangshan Zheng, Xuebin Qi, Ouzhuluobu, Huiping Ma, Linpeng Yang, Xin Wang, Wanjun Jin, Ying Cui, Rili Ge, Shizheng Wu, Pengcheng Fan, Yuan Wei, Bing Su, Fuchu He, Hongxing Zhang, Gangqiao Zhou, Hao Lu, Qi Li, Cuiling Wang, Zheng Zhang, Mengyu Liu
Xuất bản: United States: Cell genomics , 2025
Bộ sưu tập: NCBI
ddc:  525.35
 
A novel homozygous missense variant in
Tác giả: Asad Munir, Inam Ullah Khan, Muhammad Ansar, Atta Ur Rehman, Abdur Rashid, Ijaz Anwar, Sabawoon Shah, Sergey Oreshkov, Mukhtar Ullah, Haider Ali Khan, Ubaid Ullah, Ashfaq Ahmad
Xuất bản: England: Ophthalmic genetics , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics
Tác giả: Hyoungjun Ham, Crescent R Isham, Maria F Rodriguez-Quevedo, Destiny F Schultz, Baoyu Chen, Thomas G Boyce, Seth W Gregory, Mira A Kohorst, Surendra Dasari, David L Murray, Kevin C Halling, Benjamin R Kipp, Elizabeth H Ristagno, Attila Kumánovics, Hu Li, Akhilesh Pandey, Daniel D Billadeau, Amir A Sadighi Akha, Cristina Correia, Scott M Ennis, Richard K Kandasamy, Kishore Garapati, Cheng Zhang, Mindy C Kohlhagen, Elham Sadighi Akha
Xuất bản: United States: The Journal of allergy and clinical immunology , 2025
Bộ sưu tập: NCBI
ddc:  302.222
 
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII
Tác giả: Haiping Ning, Xiao Huang, Cuili Liang, Huifen Mei, Dongdong Tan, Jianqiang Tan, Xiaobao Wei, Dejian Yuan
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  343.09482
 
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects
Tác giả: Naif A M Almontashiri, Essa Alharby, Haya Alruqi, Jamil Amjad Hashmi, Aziza Mushiba
Xuất bản: Denmark: Clinical genetics , 2025
Bộ sưu tập: NCBI
ddc:  343.09482
 

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