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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: freedman g. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.
Validation of Patient-Reported Outcomes in Patients With Nonmetastatic Breast Cancer Receiving Comprehensive Nodal Irradiation in the RadComp Trial.
Hahn EA, Pugh SL, Lu HL, Vela AM, Gillespie EF, Nichols EM, Wright JL, MacDonald SM, Cahlon O, Baas C, Braunstein LZ, Fang LC, Freedman GM, Jimenez RB, Kesslering CM, Mishra MV, Mutter RW, Ohri N, Rosen LR, Urbanic JJ, Jagsi R, Mitchell SA, Bekelman JE, Cella D; RadComp (Radiotherapy Comparative Effectiveness Consortium). Hahn EA, et al. Among authors: freedman gm. Int J Radiat Oncol Biol Phys. 2024 May 13:S0360-3016(24)00436-X. doi: 10.1016/j.ijrobp.2024.03.020. Online ahead of print. Int J Radiat Oncol Biol Phys. 2024. PMID: 38739047 Free article.
Reply to G.B. Mann et al and S. Sorscher.
Jagsi R, Griffith KA, Harris EE, Wright JL, Recht A, Taghian AG, Lee L, Moran MS, Small W Jr, Johnstone C, Rahimi A, Freedman G, Muzaffar M, Haffty B, Horst K, Powell SN, Sharp J, Sabel M, Schott A, El-Tamer M. Jagsi R, et al. Among authors: freedman g. J Clin Oncol. 2024 Jun 1;42(16):1998-2000. doi: 10.1200/JCO.24.00224. Epub 2024 Mar 15. J Clin Oncol. 2024. PMID: 38489573 No abstract available.
396 results