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

Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease

外显子组测序揭示了患有 Lhermitte-Duclos 病的成人发生生殖系获得功能 EGFR 突变

Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

SEC23B 中的种系杂合变异与 Cowden 综合征相关,且在散发性甲状腺癌中富集

Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L Mester, Ruth A Keri, Bin Zhang, Charis Eng

Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes

PTEN 蛋白剂量在预测患有甲状腺癌和 Cowden 样表型的患者中潜在的种系 PTEN 突变中的效用

Joanne Ngeow, Xin He, Jessica L Mester, Junying Lei, Todd Romigh, Mohammed S Orloff, Mira Milas, Charis Eng