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

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

Molecular basis and cellular effects of Janus-class-driven cytoplasmic PYK2 coacervates.

Janus类驱动的细胞质PYK2凝聚体的分子基础和细胞效应。

Colombo Giovanni, Salem Israa, Szczepski Kacper, Yu Piao, Alfaiyz Shaden, Guzmán-Vega Francisco Javier, Abogosh Ahmed, Kulmanov Maxat, Al-Harthi Samah, Kadaré Gress, Hoehndorf Robert, Girault Jean-Antoine, Jaremko Łukasz, Momin Afaque A, Arold Stefan T

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK基因突变与神经发育障碍有关

Alabdi Lama, Altuwaijri Norah, Zhu Jun-Yi, Efthymiou Stephanie, Lee Hangnoh, Duan Jianli, Salem Israa, Yu Piao, Abdullah Nor Linda, Alzahrani Fatema, Xu Qing, Felemban Mashael M, Alfaifi Abdullah, Rahman Fatima, Christoforou Marilena, Maqbool Shazia, Martinez-Agosto Julian A, Alsaif Hessa S, Hashem Mais, Helaby Rana, Alsulaiman Ahood, Maroofian Reza, Houlden Henry, Arold Stefan T, Ibrahim Leena A, Han Zhe, Alkuraya Fowzan S