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Tetsuya Niihori

Tohoku University
H指数:39
被引数:6,850

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Attenuated Li-Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report

TP53 p.R181H突变的日本转移性直肠腺癌患者中的一种减弱型Li-Fraumeni综合征:病例报告

2026-02-030
PRE
TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice

TRPV6相关的胰腺炎:自然史以及胰腺特异性敲除对小鼠胰腺炎的影响

2025-11-170
OAAI
Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study

东北地区BRCA1和BRCA2变异频率的区域差异:一项队列研究

2025-04-180
OA
Clinical decisions by the Molecular Tumor Board on comprehensive genomic profiling tests in Japan: A retrospective observational study
2023-11-010
OA
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
2023-07-018
OAAI
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

在IMAGE-I综合征患者中鉴定出的新型极点突变会导致细胞核中异常的亚细胞定位和蛋白质降解

2022-05-094
OAAI