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

Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)

用于靶向RNA长扩增子测序(rLAS)的差异剪接工具的计算比较

Ura, Hiroki; Hatanaka, Hisayo; Togi, Sumihito; Niida, Yo

Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer.

结直肠癌中肿瘤抑制基因体细胞DNA变异和DNA甲基化的综合分析

Nishiki Hisashi, Ura Hiroki, Togi Sumihito, Hatanaka Hisayo, Fujita Hideto, Takamura Hiroyuki, Niida Yo

A male patient with pseudoxanthoma elasticum caused by isodisomy of chromosome 16 containing a nonsense variant of the ABCC6 gene: A quarter-century treatment experience

一名患有假性黄色瘤的男性患者,其病因是16号染色体同源二体性,该染色体包含ABCC6基因的无义变异:25年的治疗经验

Wakasa, Minoru; Nakagawa, Chihiro; Takamura, Taka-Aki; Fujibayashi, Kosuke; Akao, Hironobu; Kitayama, Michihiko; Shimizu, Akira; Niida, Yo; Kajinami, Kouji

Clinical and Diagnostic Utility of Genomic Profiling for Digestive Cancers: Real-World Evidence from Japan

基因组分析在消化系统癌症临床诊断中的应用:来自日本的真实世界证据

Ishikawa, Marin; Nakamura, Kohei; Kawano, Ryutaro; Hayashi, Hideyuki; Ikeda, Tatsuru; Saito, Makoto; Niida, Yo; Sasaki, Jiichiro; Okuda, Hiroyuki; Ishihara, Satoshi; Yamaguchi, Masatoshi; Shimada, Hideaki; Isobe, Takeshi; Yuza, Yuki; Yoshimura, Akinobu; Kuroda, Hajime; Yukisawa, Seigo; Aoki, Takuya; Takeshita, Kei; Ueno, Shinichi; Nakazawa, Junichi; Sunakawa, Yu; Nohara, Sachio; Okada, Chihiro; Nishimiya, Ko; Tanishima, Shigeki; Nishihara, Hiroshi

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

对一名患有蛋白S缺乏症的患者体内一种新型PROS1剪接变体的研究

Niida, Yo; Fujita, Wataru; Togi, Sumihito; Ura, Hiroki

Individualized tacrolimus therapy: Insights from CYP3A5 polymorphisms and intestinal metabolism

个体化他克莫司治疗:来自 CYP3A5 多态性和肠道代谢的启示

Mishima, Mizuki; Yabe, Tomohisa; Kondo, Takaya; Fujimoto, Keiji; Takata, Ryoji; Yokoyama, Hitoshi; Niida, Yo; Tanaka, Tatsuro; Miyazawa, Katsuhito; Furuichi, Kengo

Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells

利用人血小板裂解物诱导的抗原呈递细胞进行个性化癌症疫苗安全性和耐受性的临床试验

Koya, Terutsugu; Yoshida, Kenichi; Togi, Misa; Niida, Yo; Togi, Sumihito; Ura, Hiroki; Mizuta, Shuichi; Kato, Tomohisa Jr; Yamada, Sohsuke; Shibata, Takeo; Liu, Yi-Chang; Yuan, Shyng-Shiou; Wu, Deng-Chyang; Kobayashi, Hirohito; Utsugisawa, Taiju; Kanno, Hitoshi; Shimodaira, Shigetaka

Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy

由一种新型 COL7A1 变异体(伴有同源二体性)引起的隐性营养不良型大疱性表皮松解症

Niida, Yo; Kobayashi, Azusa; Togi, Sumihito; Ura, Hiroki

Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies

利用基于长片段聚合酶链式反应(PCR)的下一代测序技术简化I型和II型胶原病基因诊断

Niida, Yo; Togi, Sumihito; Ura, Hiroki

A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies

一例伴有副神经节瘤复发但无其他相关症状的冯·希佩尔-林道综合征病例:基因检测和制定随访策略的重要性

Okada, Naoki; Shioya, Akihiro; Togi, Sumihito; Ura, Hiroki; Niida, Yo