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

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

日本纯合SMN2缺失的发生率:SMN2引物与SMN1序列的交叉反应导致实时PCR筛查出现假阴性

Sakima Makoto, Bouike Yoshihiro, Wada Shin-Ichi, Nakamae Masami, Noguchi Yoriko, Bo Ryosuke, Awano Hiroyuki, Oba Jumpei, Nishio Hisahide

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

日本兵库县新生儿脊髓性肌萎缩症的PCR筛查

Noguchi, Yoriko; Bo, Ryosuke; Nishio, Hisahide; Matsumoto, Hisayuki; Matsui, Keiji; Yano, Yoshihiko; Sugawara, Masami; Ueda, Go; Wijaya, Yogik Onky Silvana; Niba, Emma Tabe Eko; Shinohara, Masakazu; Bouike, Yoshihiro; Takeuchi, Atsuko; Okamoto, Kentaro; Saito, Toshio; Shimomura, Hideki; Lee, Tomoko; Takeshima, Yasuhiro; Iijima, Kazumoto; Nozu, Kandai; Awano, Hiroyuki

A Case of Paroxysmal Cold Hemoglobinuria Possessing Moderate Paroxysmal Nocturnal Hemoglobinuria-Type Erythrocytes

一例伴有中度阵发性夜间血红蛋白尿的阵发性冷性血红蛋白尿病例,红细胞

Sugimoto, Takeshi; Masui, Eri; Ohata, Shinya; Goto, Hideaki; Tomita, Takako; Hashimoto, Hiromi; Bouike, Yoshihiro

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

利用干血斑测定SMN1拷贝数评估脊髓性肌萎缩症携带者状态

Wijaya, Yogik Onky Silvana; Purevsuren, Jamiyan; Harahap, Nur Imma Fatimah; Niba, Emma Tabe Eko; Bouike, Yoshihiro; Nurputra, Dian Kesumapramudya; Rochmah, Mawaddah Ar; Thursina, Cempaka; Hapsara, Sunartini; Yamaguchi, Seiji; Nishio, Hisahide; Shinohara, Masakazu

An improved assay for pyruvate dehydrogenase: reply

改进的丙酮酸脱氢酶检测方法:回复

Noguchi, Yoriko; Bo, Ryosuke; Nishio, Hisahide; Matsumoto, Hisayuki; Matsui, Keiji; Yano, Yoshihiko; Sugawara, Masami; Ueda, Go; Wijaya, Yogik Onky Silvana; Niba, Emma Tabe Eko; Shinohara, Masakazu; Bouike, Yoshihiro; Takeuchi, Atsuko; Okamoto, Kentaro; Saito, Toshio; Shimomura, Hideki; Lee, Tomoko; Takeshima, Yasuhiro; Iijima, Kazumoto; Nozu, Kandai; Awano, Hiroyuki; Paxton, Ralph