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

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

锌指同源框 4 基因 (ZFHX4) 功能丧失是神经发育障碍的根本原因

Pérez Baca María Del Rocío, Palomares-Bralo María, Vanhooydonck Michiel, Hamerlinck Lisa, D'haene Eva, Leimbacher Sebastian, Jacobs Eva Z, De Cock Laurenz, D'haenens Erika, Dheedene Annelies, Malfait Zoë, Vantomme Lies, Silva Ananilia, Rooney Kathleen, Zhao Xiaonan, Saeidian Amir Hossein, Owen Nichole Marie, Santos-Simarro Fernando, Lleuger-Pujol Roser, García-Miñaúr Sixto, Losantos-García Itsaso, Menten Björn, Gestri Gaia, Ragge Nicola, Sadikovic Bekim, Bogaert Elke, Vleminckx Kris, Naert Thomas, Syx Delfien, Callewaert Bert, Vergult Sarah

Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant

利用先导编辑技术评估成年斑马鱼中意义未明的变异:以 COL1A2 变异为例的概念验证

Vanhooydonck, Michiel; Debaenst, Sophie; Vanbelleghem, Eva; De Saffel, Hanna; Syx, Delfien; Sips, Patrick; Coucke, Paul J; Willaert, Andy; Callewaert, Bert

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

EFEMP1 功能丧失变异会导致一种可识别的结缔组织疾病,其特征是皮肤松弛和多发性疝。

Verlee, Maxim; Beyens, Aude; Gezdirici, Alper; Gulec, Elif Yilmaz; Pottie, Lore; De Feyter, Silke; Vanhooydonck, Michiel; Tapaneeyaphan, Piyanoot; Symoens, Sofie; Callewaert, Bert