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

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

综合基因检测在遗传性肿瘤综合征诊断中的应用价值和临床应用价值

Henn, Jonas; Spier, Isabel; Adam, Ronja S; Holzapfel, Stefanie; Uhlhaas, Siegfried; Kayser, Katrin; Plotz, Guido; Peters, Sophia; Aretz, Stefan

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

外显子组测序发现双等位基因 MSH3 生殖系突变是结直肠腺瘤性息肉病的隐性亚型

Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stefan