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Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X. Ji L, et al. Among authors: link n. J Clin Invest. 2025 Jul 3;135(18):e186119. doi: 10.1172/JCI186119. eCollection 2025 Sep 16. J Clin Invest. 2025. PMID: 40608414 Free PMC article.
Diversity in the medical research ecosystem: a descriptive scientometric analysis of over 49 000 studies and 150 000 authors published in high-impact medical journals between 2007 and 2022.
Charpignon ML, Matos J, Nakayama LF, Gallifant J, Alfonso PGI, Cobanaj M, Fiske AM, Gates AJ, Ho FDV, Jain U, Kashkooli M, Link N, McCoy LG, Shaffer J, Celi LA. Charpignon ML, et al. Among authors: link n. BMJ Open. 2025 Jan 22;15(1):e086982. doi: 10.1136/bmjopen-2024-086982. BMJ Open. 2025. PMID: 39843370 Free PMC article.
113 results