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

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy

脊椎软骨发育不良:一种神秘的I型免疫骨干扰素病

Wong, Callie C Y; Wauquier, Tifenn; Uggenti, Carolina; Stok, Colin; Lepelley, Alice; Frémond, Marie-Louise; Crow, Yanick J

Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies

通过替代性双链断裂修复、复制压力和有丝分裂异常来塑造 BRCA 突变图谱

Stok, Colin; Kok, Yannick P; van den Tempel, Nathalie; van Vugt, Marcel A T M