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

Correction: Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management

更正:KCNT1相关疾病中的体肺侧支循环:精确命名和管理

Delaney, Jeffery; Kohli, Utkarsh; Kawasaki, Yuki; Burg, Casey; Boonsimma, Ponghatai; Ikeda, Azusa; Paprad, Tanitnun; Bearden, David; West, Justin; Drislane, Sarah; Bryan, Brad; Abuhl, Amanda

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

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

儿童期发病遗传性痉挛性截瘫的遗传和临床特征:日本单中心研究

Ikeda, Azusa; Kumaki, Tatsuro; Tsuyusaki, Yu; Tsuji, Megumi; Enomoto, Yumi; Fujita, Atsushi; Saitsu, Hirotomo; Matsumoto, Naomichi; Kurosawa, Kenji; Goto, Tomohide

Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report

儿童暴发性恶性高热伴严重脑电图异常和脑损伤:病例报告

Minami, Sakura; Ikeda, Azusa; Yamada, Kaori; Kajihama, Aya; Shimizu, Hiroyuki; Nagafuchi, Hiroyuki

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

描述由KAT6B错义变异引起的表型,该表型与Say-Barber-Biesecker-Young-Simpson综合征和生殖髌骨综合征不同

Nishimura, Naoto; Enomoto, Yumi; Kumaki, Tatsuro; Murakami, Hiroaki; Ikeda, Azusa; Goto, Tomohide; Kurosawa, Kenji