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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. Shao DD, et al. Among authors: dong m. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
Structure and conformational dynamics of Clostridioides difficile toxin A.
Chen B, Basak S, Chen P, Zhang C, Perry K, Tian S, Yu C, Dong M, Huang L, Bowen ME, Jin R. Chen B, et al. Among authors: dong m. Life Sci Alliance. 2022 Mar 15;5(6):e202201383. doi: 10.26508/lsa.202201383. Print 2022 Jun. Life Sci Alliance. 2022. PMID: 35292538 Free PMC article.
5,072 results