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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.
Executive Summary of the American Radium Society Appropriate Use Criteria: Regional Nodal Irradiation for Breast Cancer.
Choi JI, Freedman GM, Guttmann DM, Ahmed K, Gao W, Walker EM, Harris EE, Gonzalez V, Ye J, Nead K, Taunk N, Tadros AB, Dang CT, Daroui P, Novick K; Expert Panel on Breast Cancer. Choi JI, et al. Among authors: freedman gm. Am J Clin Oncol. 2024 Nov 14. doi: 10.1097/COC.0000000000001154. Online ahead of print. Am J Clin Oncol. 2024. PMID: 39761648
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; Study Group Investigators:. Hahn EA, et al. Among authors: freedman gm. Int J Radiat Oncol Biol Phys. 2024 Sep 1;120(1):149-161. doi: 10.1016/j.ijrobp.2024.03.020. Epub 2024 May 13. Int J Radiat Oncol Biol Phys. 2024. PMID: 38739047 Free PMC article. Clinical Trial.
400 results