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566 results

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Page 1
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: bedford m. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. Chater-Diehl E, et al. Among authors: bedford m. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. BMC Med Genomics. 2019. PMID: 31288860 Free PMC article.
A six-month-old infant with liver steatosis.
Stormon MO, Cutz E, Furuya K, Bedford M, Yerkes L, Tolan DR, Feigenbaum A. Stormon MO, et al. Among authors: bedford m. J Pediatr. 2004 Feb;144(2):258-63. doi: 10.1016/j.jpeds.2003.11.037. J Pediatr. 2004. PMID: 14760272 Free PMC article. No abstract available.
Safe emergency general surgery-ASGBI statement.
Javanmard-Emamghissi H; ASGBI EGS Collaborative. Javanmard-Emamghissi H, et al. Br J Surg. 2024 Nov 27;111(12):znae303. doi: 10.1093/bjs/znae303. Br J Surg. 2024. PMID: 39658049 No abstract available.
Anastomotic leak after manual circular stapled left-sided bowel surgery: analysis of technology-, disease-, and patient-related factors.
European Society of Coloproctology (ESCP) Circular Stapled Anastomosis Working Group and 2017 European Society of Coloproctology (ESCP) Collaborating Group. European Society of Coloproctology (ESCP) Circular Stapled Anastomosis Working Group and 2017 European Society of Coloproctology (ESCP) Collaborating Group. BJS Open. 2024 Sep 3;8(5):zrae089. doi: 10.1093/bjsopen/zrae089. BJS Open. 2024. PMID: 39441693 Free PMC article.
MTA-cooperative PRMT5 inhibitors enhance T cell-mediated antitumor activity in MTAP-loss tumors.
Chen S, Hou J, Jaffery R, Guerrero A, Fu R, Shi L, Zheng N, Bohat R, Egan NA, Yu C, Sharif S, Lu Y, He W, Wang S, Gjuka D, Stone EM, Shah PA, Rodon Ahnert J, Chen T, Liu X, Bedford MT, Xu H, Peng W. Chen S, et al. Among authors: bedford mt. J Immunother Cancer. 2024 Sep 23;12(9):e009600. doi: 10.1136/jitc-2024-009600. J Immunother Cancer. 2024. PMID: 39313308 Free PMC article.
Mature microRNA-binding protein QKI suppresses extracellular microRNA let-7b release.
Min KW, Choi KM, Mun H, Ko S, Lee JW, Sagum CA, Bedford MT, Kim YK, Delaney JR, Cho JH, Dawson TM, Dawson VL, Twal W, Kim DC, Panganiban CH, Lang H, Zhou X, Shin S, Hu J, Heise T, Kwon SH, Kim D, Kim YH, Kang SU, Kim K, Lewis S, Eroglu A, Ryu S, Kim D, Chang JH, Jung J, Yoon JH. Min KW, et al. Among authors: bedford mt. J Cell Sci. 2024 Nov 1;137(21):jcs261575. doi: 10.1242/jcs.261575. Epub 2024 Nov 6. J Cell Sci. 2024. PMID: 39308343 Free PMC article.
566 results