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

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

作者更正:SART3基因变异会导致剪接体病,其特征是睾丸发育不全和神经元缺陷。

Ayers, Katie L; Eggers, Stefanie; Rollo, Ben N; Smith, Katherine R; Davidson, Nadia M; Siddall, Nicole A; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jørgensen, Anne; Schittenhelm, Ralf B; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J; Kwan, Patrick; Koopman, Peter; Hime, Gary R; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease

四例D-双功能蛋白(DBP)缺乏症患者:拓展这种高度变异性疾病的表型谱

Landau, Yuval E; Heimer, Gali; Barel, Ortal; Shalva, Nechama; Marek-Yagel, Dina; Veber, Alvit; Javasky, Elisheva; Shilon, Aya; Nissenkorn, Andreea; Ben-Zeev, Bruria; Anikster, Yair

The weakening relationship between Eurasian spring snow cover and Indian summer monsoon rainfall

欧亚大陆春季积雪覆盖与印度夏季风降雨之间关系减弱

Zhang, Taotao; Wang, Tao; Krinner, Gerhard; Wang, Xiaoyi; Gasser, Thomas; Peng, Shushi; Piao, Shilon; Yao, Tandong

Creatine transporter deficiency: Novel mutations and functional studies

肌酸转运蛋白缺乏症:新型突变和功能研究

Ardon, O; Procter, M; Mao, R; Longo, N; Landau, Y E; Shilon-Hadass, A; Gabis, L V; Hoffmann, C; Tzadok, M; Heimer, G; Sada, S; Ben-Zeev, B; Anikster, Y