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

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model

Snijders-Blok-Campeau综合征的两种不同表型及其在斑马鱼模型中的行为表型特征

Enomoto, Yumi; Shiromizu, Takashi; Yasojima, Sakyo; Koiwa, Junko; Kuroda, Yukiko; Ito, Hiroaki; Yuge, Mizuki; Ohkawa, Momoka; Shibata, Ryohei; Murakami, Hiroaki; Naruto, Takuya; Shiiya, Shizuka; Omotani, Naoko; Nishimura, Yuhei; Kurosawa, Kenji

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus

TMEM260双等位基因缺失是动脉干的根本原因

Enomoto, Yumi; Naruto, Takuya; Mitsui, Jun; Ueda, Hideaki; Kurosawa, Kenji

B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency.

与多核苷酸激酶 3'-磷酸酶 (PNKP) 缺乏相关的 B 细胞免疫缺陷

Takada Sanami, Okano Tsubasa, Tanita Kay, Tsukada Kaima, Watanabe Masato, Hijikata Atsushi, Naruto Takuya, Yeh Tzu-Wen, Kasuga Saki, Tokimasa Sadao, Taniguchi-Ikeda Mariko, Ogata Reina, Ikeda Azusa, Goto Tomohide, Osaka Hitoshi, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, van der Burg Mirjam, Shimada Mikio, Kanegane Hirokazu

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

利用短读长二代DNA测序技术对难以测序的区域进行全外显子组基准测试

Hijikata, Atsushi; Suyama, Mikita; Kikugawa, Shingo; Matoba, Ryo; Naruto, Takuya; Enomoto, Yumi; Kurosawa, Kenji; Harada, Naoki; Yanagi, Kumiko; Kaname, Tadashi; Miyako, Keisuke; Takazawa, Masaki; Sasai, Hideo; Hosokawa, Junichi; Itoga, Sakae; Yamaguchi, Tomomi; Kosho, Tomoki; Matsubara, Keiko; Kuroki, Yoko; Fukami, Maki; Adachi, Kaori; Nanba, Eiji; Tsuchida, Naomi; Uchiyama, Yuri; Matsumoto, Naomichi; Nishimura, Kunihiro; Ohara, Osamu

Safety, efficacy and pharmacokinetics of palivizumab in off-label neonates, infants, and young children at risk for serious respiratory syncytial virus infection: a multicenter phase II clinical trial

帕利珠单抗在有严重呼吸道合胞病毒感染风险的新生儿、婴儿和幼儿中的安全性、有效性和药代动力学:一项多中心 II 期临床试验

Mori, Masaaki; Yoshizaki, Kanako; Watabe, Shinichi; Ishige, Mika; Hinoki, Akinari; Kondo, Takuya; Taguchi, Tomoaki; Hasegawa, Hisaya; Hatata, Tomoko; Tanuma, Naoyuki; Kirino, Kosuke; Hirakawa, Akihiro; Naruto, Takuya; Imai, Minoru; Koike, Ryuji; Hosoi, Kenichiro; Kusuda, Satoshi

Kawasaki disease without changes in inflammatory biomarkers: A case report

川崎病无炎症生物标志物改变:病例报告

Yamashita, Kosei; Kanazawa, Takeru; Abe, Yoshifusa; Naruto, Takuya; Mori, Masaaki

The Benefits and Respective Side-Effects of PE Therapy for Intractable Kawasaki Disease

PE疗法治疗难治性川崎病的益处及相应副作用

Mori, Masaaki; Yamazaki, Susumu; Naruto, Takuya

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

患有新型DNMT3A突变的Tatton-Brown-Rahman综合征表现为严重的智力障碍和自闭症谱系障碍。

Yokoi, Takayuki; Enomoto, Yumi; Naruto, Takuya; Kurosawa, Kenji; Higurashi, Norimichi

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Usher综合征I型患者中发现新的CDH23复合杂合变异

Okano, Satomi; Makita, Yoshio; Katada, Akihiro; Harabuchi, Yasuaki; Kohmoto, Tomohiro; Naruto, Takuya; Masuda, Kiyoshi; Imoto, Issei

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

由EVC2基因新突变引起的严重型埃利斯-范克雷费尔德综合征

Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Tsurusaki, Yoshinori; Kuroda, Yukiko; Ishikawa, Hiroshi; Ohyama, Makiko; Aida, Noriko; Nishimura, Gen; Kurosawa, Kenji