日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

携带新生 PAK2 变异的个体出现 Knobloch 综合征 2 型的表型扩展

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

PATH-46. DETECTING MISDIAGNOSED ATYPICAL TERATOID/RHABDOID TUMOR (ATRT) BY DNA METHYLATION-BASED TUMOR CLASSIFICATION

路径-46. 基于DNA甲基化的肿瘤分类检测误诊的非典型畸胎瘤/横纹肌样瘤(ATRT)

Lam, Patricia; Gulati, Neetu M; Stewart, Phoebe L; Keri, Ruth A; Steinmetz, Nicole F; Hsiao, Meng-Chang; Holinka, Lauren; Peracchio, Michael; Kelly, Kevin; Hesse, Andrew; Lau, Ching; Reddi, Honey