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

A stable NTN1 fluorescent reporter chicken reveals cell specific molecular signatures during optic fissure closure.

稳定的 NTN1 荧光报告鸡揭示了视裂闭合过程中细胞特异性的分子特征

Ho Ching Chan Brian, Hardy Holly, Requena Teresa, Findlay Amy, Ioannidis Jason, Meunier Dominique, Toms Maria, Moosajee Mariya, Raper Anna, McGrew Mike J, Rainger Joe

Copy number variation of LINGO1 in familial dystonic tremor

家族性肌张力障碍性震颤中LINGO1的拷贝数变异

Alakbarzade, Vafa; Iype, Thomas; Chioza, Barry A; Singh, Royana; Harlalka, Gaurav V; Hardy, Holly; Sreekantan-Nair, Ajith; Proukakis, Christos; Peall, Kathryn; Clark, Lorraine N; Caswell, Richard; Lango Allen, Hana; Wakeling, Matthew; Chilton, John K; Baple, Emma L; Louis, Elan D; Warner, Thomas T; Crosby, Andrew H

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

SLC5A7 截断突变是多种显性遗传性运动神经病的基础。

Salter, Claire G; Beijer, Danique; Hardy, Holly; Barwick, Katy E S; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A; McEntagart, Meriel M; Chioza, Barry A; Blakely, Randy D; Chilton, John K; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L; Walk, David; Crosby, Andrew H

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

重症先天性肌无力综合征中的胆碱转运蛋白突变会破坏转运蛋白的定位。

Wang, Haicui; Salter, Claire G; Refai, Osama; Hardy, Holly; Barwick, Katy E S; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A; Abdul-Rahman, Omar A; Chilton, John; Blakely, Randy D; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew H