المؤلفون: Pant, Devesh C., Dorboz, Imen, Schlüter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas Pons, Carlos, Willis, Mary J., Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N., Musaev, Damir, Zaki, Maha S., Patterson, Marc C., Lanpher, Brendan C., Klee, Eric W., Pinto e Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M., Cohen, Julie S., Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamrez, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G., Pujades, Cristina, Fatemi, Ali, Boespflug‐Tanguy, Odile, Pujol Onofre, Aurora

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Malalties hereditàries, Neurociències, Genetic disorders, Neurosciences

وصف الملف: 16 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1172/JCI123959Test; Journal of Clinical Investigation, 2019, vol. 129, num. 3, p. 1240-1256; https://doi.org/10.1172/JCI123959Test; http://hdl.handle.net/2445/171613Test; 709051

الإتاحة: https://doi.org/10.1172/JCI123959Test
http://hdl.handle.net/2445/171613Test

المؤلفون: Yan, Huifang, Yang, Shuyan, Hou, Yiming, Ali, Saima, Escobar, Adrian, Gao, Kai, Duan, Ruoyu, Kubisiak, Thomas, Wang, Junyu, Zhang, Yu, Xiao, Jiangxi, Jiang, Yuwu, Zhang, Ting, Wu, Ye, Burmeister, Margit, Wang, Qiang, Cuajungco, Math P., Wang, Jingmin

المصدر: Cells (2073-4409); Apr2022, Vol. 11 Issue 8, p1285, 17p

مصطلحات موضوعية: GENETIC variation, MYELIN proteins, LEUKODYSTROPHY, ZINC transporters, MAGNETIC resonance imaging, OLIGODENDROGLIA, GENETIC disorders

المؤلفون: Chen, Li, Yan, Huifang, Cao, Binbin, Wu, Ye, Gu, Qiang, Xiao, Jiangxi, Yang, Yanling, Yang, Huixia, Shi, Zhen, Yang, Zhixian, Pan, Hong, Chang, Xingzhi, Chen, Junya, Sun, Yu, Zhang, Yuehua, Wu, Xiru, Jiang, Yuwu, Wang, Jingmin

المصدر: International Journal of Genomics; 7/3/2018, p1-9, 9p, 1 Black and White Photograph, 1 Diagram, 3 Charts, 3 Graphs

مصطلحات موضوعية: METACHROMATIC leukodystrophy, ARYLSULFATASES, POLYMERASE chain reaction, DIFFUSE cerebral sclerosis, GENETIC disorders

المؤلفون: Leng, Xuerong, Wu, Ye, Wang, Xuemin, Pan, Yanxia, Wang, Jingmin, Li, Jiao, Du, Li, Dai, Lifang, Wu, Xiru, Proud, Christopher G, Jiang, Yuwu

المصدر: Journal of Human Genetics; Apr2011, Vol. 56 Issue 4, p300-305, 6p, 4 Black and White Photographs, 2 Charts, 1 Graph

مصطلحات موضوعية: GENETIC mutation, EUKARYOTIC cells, GENETIC translation, GENETIC disorders, PROTEIN synthesis, G proteins, PHOSPHORYLATION, PHENOTYPES

مصطلحات جغرافية: CHINA

المؤلفون: Wang, Jingmin¹, Shang, Jing², Wu, Ye¹, Gu, Qiang¹, Xiong, Hui¹, Ding, Changhong³, Wang, Liwen⁴, Gao, Zhijie⁴, Wu, Xiru¹, Jiang, Yuwu¹

المصدر: Journal of Human Genetics. Feb2011, Vol. 56 Issue 2, p138-142. 5p. 1 Black and White Photograph, 2 Charts.

مصطلحات موضوعية: *GENETIC mutation, *GENETIC disorders, *MEDICAL publishing, *ETHNIC groups, *SCIENCE publishing

مصطلحات جغرافية: CHINA

المؤلفون: Chang, Xuting, Zhang, Jie, Jiang, Yuwu, Yao, Bufan, Wang, Jingmin, Wu, Ye

المصدر: Orphanet Journal of Rare Diseases; 9/14/2020, Vol. 15 Issue 1, p248-248, 1p

مصطلحات موضوعية: SULFUR compounds, PILOT projects, RESEARCH, CLINICAL trials, RESEARCH methodology, GENETIC disorders, MEDICAL cooperation, EVALUATION research, TREATMENT effectiveness, COMPARATIVE studies, QUALITY of life, RESEARCH funding, NEURODEGENERATION