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

The progress of medication-related osteonecrosis of the jaw with conservative initial treatment: A 12-year retrospective study of 129 patients

药物相关性颌骨坏死的进展:一项对129例患者进行为期12年的回顾性研究

Kaibuchi, Nobuyuki; Hoshi, Keika; Yamazaki, Ayame; Miyamoto-Sangu, Noriko; Akagi, Yuichi; Okamoto, Toshihiro

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

包含LRRC4和GRM8的7q31.33q32.1微缺失与严重的智力障碍和自闭症特征相关。

Sangu, Noriko; Shimojima, Keiko; Takahashi, Yuya; Ohashi, Tsukasa; Tohyama, Jun; Yamamoto, Toshiyuki

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

一名患有内耳异常的患者体内新发的微缺失提示10q26.13区域包含致病基因。

Sangu, Noriko; Okamoto, Nobuhiko; Shimojima, Keiko; Ondo, Yumiko; Nishikawa, Masanori; Yamamoto, Toshiyuki

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.

在婴儿期良性部分性癫痫和/或热性惊厥患者中发现 CLCN6 的单核苷酸变异

Yamamoto Toshiyuki, Shimojima Keiko, Sangu Noriko, Komoike Yuta, Ishii Atsushi, Abe Shinpei, Yamashita Shintaro, Imai Katsumi, Kubota Tetsuo, Fukasawa Tatsuya, Okanishi Tohru, Enoki Hideo, Tanabe Takuya, Saito Akira, Furukawa Toru, Shimizu Toshiaki, Milligan Carol J, Petrou Steven, Heron Sarah E, Dibbens Leanne M, Hirose Shinichi, Okumura Akihisa

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

一名发育迟缓且面部特征独特的患者,其11q12.3区域发生新生三重复。

Yamamoto, Toshiyuki; Matsuo, Mari; Shimada, Shino; Sangu, Noriko; Shimojima, Keiko; Aso, Seijiro; Saito, Kayoko