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

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

靶向重测序鉴定出脑瘫中具有复发性变异的基因

van Eyk, C L; Corbett, M A; Frank, M S B; Webber, D L; Newman, M; Berry, J G; Harper, K; Haines, B P; McMichael, G; Woenig, J A; MacLennan, A H; Gecz, J

The Role of Neurogenic Inflammation in Blood-Brain Barrier Disruption and Development of Cerebral Oedema Following Acute Central Nervous System (CNS) Injury

神经源性炎症在急性中枢神经系统损伤后血脑屏障破坏和脑水肿发展中的作用

Sorby-Adams, Annabel J; Marcoionni, Amanda M; Dempsey, Eden R; Woenig, Joshua A; Turner, Renée J

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

THOC2 突变提示 mRNA 输出通路与 X 连锁智力障碍有关

Raman Kumar, Mark A Corbett, Bregje W M van Bon, Joshua A Woenig, Lloyd Weir, Evelyn Douglas, Kathryn L Friend, Alison Gardner, Marie Shaw, Lachlan A Jolly, Chuan Tan, Matthew F Hunter, Anna Hackett, Michael Field, Elizabeth E Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Co

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

STXBP5L基因的纯合突变可导致一种常染色体隐性遗传的婴儿期发病神经退行性疾病。

Kumar, Raman; Corbett, Mark A; Smith, Nicholas J C; Jolly, Lachlan A; Tan, Chuan; Keating, Damien J; Duffield, Michael D; Utsumi, Toshihiko; Moriya, Koko; Smith, Katherine R; Hoischen, Alexander; Abbott, Kim; Harbord, Michael G; Compton, Alison G; Woenig, Joshua A; Arts, Peer; Kwint, Michael; Wieskamp, Nienke; Gijsen, Sabine; Veltman, Joris A; Bahlo, Melanie; Gleeson, Joseph G; Haan, Eric; Gecz, Jozef