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

De Novo CUL3 Variant in a Child Presenting With Hypertension and Kidney Failure

一名患有高血压和肾衰竭的儿童携带新生CUL3变异

Peremans, Lieselot; Dendooven, Amélie; D'haenens, Erika; Symoens, Sofie; Callewaert, Bert; Decock, Laurenz; Vantomme, Lies; Vergult, Sarah; Dehoorne, Joke; Dossche, Lien; Prytula, Agnieszka; Raes, Ann; Renson, Thomas; Snauwaert, Evelien; Van Damme, Tim

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

通过长读长测序和光学基因组图谱对未解析的结构变异进行全面表征

De Clercq, Griet; Vantomme, Lies; Dewaele, Barbara; Callewaert, Bert; Vanakker, Olivier; Janssens, Sandra; Loeys, Bart; Strazisar, Mojca; De Coster, Wouter; Vermeesch, Joris Robert; Dheedene, Annelies; Menten, Björn

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

一种由锌指同源框3 (ZFHX3) 基因功能丧失引起的新型神经发育综合征

Del Rocío Pérez Baca, María; Jacobs, Eva Z; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, Maria; Carels, Marieke; Demaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics

在具有雷特综合征样特征的患者中,MEF2C上游的神经元增强子网络受到损害。

D'haene, Eva; Bar-Yaacov, Reut; Bariah, Inbar; Vantomme, Lies; Van Loo, Sien; Cobos, Francisco Avila; Verboom, Karen; Eshel, Reut; Alatawna, Rawan; Menten, Björn; Birnbaum, Ramon Y; Vergult, Sarah