Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
对局灶性脑畸形中PI3K-AKT-MTOR变异体的分析揭示了诊断护理的新见解
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awab376
Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M