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

Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome

与梁王综合征相关的两个新的新生 KCNMA1 变异的鉴定和功能分析

Lina Liang, Huihui Liu, Deborah Bartholdi, Arie van Haeringen, Alberto Fernandez-Jaén, Els E A Peeters, Hongbo Xiong, Xuemei Bai, Chengqi Xu, Tie Ke, Qing K Wang

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

CRADD 基因突变导致 Caspase-2 介导的神经元凋亡减少,并导致巨脑症和罕见的无脑症变体

Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimber

Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling

Coronin 1 通过调节 cAMP/蛋白激酶 A 信号来调节认知和行为

Rajesh Jayachandran, Xiaolong Liu, Somdeb Bosedasgupta, Philipp Müller, Chun-Lei Zhang, Despina Moshous, Vera Studer, Jacques Schneider, Christel Genoud, Catherine Fossoud, Frédéric Gambino, Malik Khelfaoui, Christian Müller, Deborah Bartholdi, Helene Rossez, Michael Stiess, Xander Houbaert, Rolf Ja

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

外显子组测序发现 INPPL1 突变是眼部发育不良的病因

Céline Huber ,Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G Santos, Stavit A Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire