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

A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome

一种与周期性斜视相关的新型 OPHN1 变异体,但并不伴有 OPHN1 综合征。

Nishina, Sachiko; Kofuji, Satoshi; Matsubara, Keiko; Anzai, Hazuki; Hirakata, Kyoko; Hanazono, Yuya; Okamoto-Uchida, Yoshimi; Hirayama, Jun; Ito, Nobutoshi; Fukami, Maki; Nishina, Hiroshi

Secular Trends in the Prevalence of Small Vulnerable Newborns in Japan, 1997-2021

1997-2021年日本低出生体重儿患病率的长期趋势

Yoshii, Keisuke; Doi, Hibiki; Igarashi, Mizuho; Ogawa, Kohei; Matsubara, Keiko; Isayama, Tetsuya; Kashimada, Kenichi; Morisaki, Naho

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients

颞叶综合征:对60名经基因确诊的日本患者进行的全面临床研究

Ogawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo

Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures

对Silver-Russell综合征的甲基化谱进行研究,以探索表观遗传特征

Hara-Isono, Kaori; Inoue, Takanobu; Nakamura, Akie; Fuke, Tomoko; Yamazawa, Kazuki; Matsubara, Keiko; Fukami, Maki; Ogata, Tsutomu; Kawai, Tomoko; Kagami, Masayo

Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature

X连锁低磷血症女孩PHEX基因内重复:病例报告及文献复习

Akiba, Kazuhisa; Matsubara, Keiko; Hattori, Atsushi; Fukami, Maki

KCNJ11 readthrough variant in a patient with congenital hyperinsulinism

先天性高胰岛素血症患者中的KCNJ11读通变异

Uehara, Erika; Sugihara, Keiichi; Hata, Ikue; Akiba, Kazuhisa; Hattori, Atsushi; Kageyama, Ikuko; Matsubara, Keiko; Fukami, Maki

ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia

ABCC8 单倍体功能不全在患有早发性糖尿病(伴或不伴新生儿低血糖)的母女中

Uehara, Erika; Shimura, Naoto; Matsubara, Keiko; Kageyama, Ikuko; Yorifuji, Tohru; Fukami, Maki

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing

利用扩增子靶向二代测序技术,通过干血斑检测46,XY性发育异常/障碍:旨在通过微创检测实现诊断。

Uehara, Erika; Akiba, Kazuhisa; Matsubara, Keiko; Fukami, Maki; Tanase-Nakao, Kanako

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome

一名患有孤立性卡尔曼综合征的男孩的TCF12基因新发剪接位点变异

Suzuki, Erina; Shima, Hirohito; Ueda, Aki; Nakabayashi, Kazuhiko; Matsubara, Keiko; Kuroki, Yoko; Kanno, Junko; Fukami, Maki

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