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

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease

对大量纤毛病相关肾病患者进行外显子组测序

Petzold, Friederike; Jeanpierre, Cécile; Chen, Xiaoyi; Morinière, Vincent; Benmerah, Alexandre; Dorval, Guillaume; Saei, Hassan; Heidet, Laurence; Antignac, Corinne; Saunier, Sophie

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome

在Alport综合征类器官模型中,COL4A5的剪接调控可恢复IV型胶原的组装。

Saei, Hassan; Estebe, Bruno; Goudin, Nicolas; Esmailpour, Mahsa; Haure, Julie; Gribouval, Olivier; Arrondel, Christelle; Moriniere, Vincent; Tian, Pinyuan; Lennon, Rachel; Antignac, Corinne; Mollet, Geraldine; Dorval, Guillaume

Genetic screening in kidney transplant candidates

肾移植候选者的基因筛查

Le Moal, Philippe; Knebelmann, Bertrand; Hummel, Aurélie; Gribouval, Olivier; Anglicheau, Dany; Legendre, Christophe; Morinière, Vincent; Heidet, Laurence; Dorval, Guillaume; Antignac, Corinne; Servais, Aude

Intraspecific variation in prey quality affects the consumption rates of top predators

猎物质量的种内差异会影响顶级捕食者的捕食率。

Nehasil, Stephanie E; Zwolinski, Juan P; Dorval, Emmanis; Kurle, Carolyn M

A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions

一种新的肌营养不良蛋白缺陷大鼠模型,模拟了DMD患者45号外显子缺失中的外显子跳跃现象

Wang, Tao; Daoud, Cynthia; Dubois, Auriane; Corre, Guillaume; Bellec, Jessica; Bovolenta, Matteo; Philidet, Louise; Dorval, Alan; Bourg, Nathalie; Roudaut, Carinne; Albini, Sonia; Warthi, Ganesh; Jaber, Abbass; Richard, Isabelle

Pelvi-Ureteric Junction Obstruction in a Solitary Functioning Kidney in Children: An Unfavourable Combination

儿童单侧功能肾合并肾盂输尿管连接部梗阻:一种不利的组合

Grapin, Mathilde; Rabaux, Lucas; Glenisson, Mathilde; Mille, Eva; Biebuyck, Nathalie; Preka, Evgenia; Boyer, Olivia; Taghavi, Kiarash; Dorval, Guillaume; Blanc, Thomas

Mixed Ionic and Electronic Charge Transport in Conductive Protein Fibers Revealed with DC Electrical Measurements

利用直流电测量揭示导电蛋白纤维中的混合离子和电子电荷传输

Modafferi, Daniel; Hao, Xinxin; Wong, Kingsley L-J; Ferraro, Juliana; Zhang, Weijia; Xie, Oliver; Dorval Courchesne, Noémie-Manuelle

Unlocking azole chemical space via modular and regioselective N-alkylation

通过模块化和区域选择性N-烷基化反应解锁唑类化合物的化学空间

Dorval, Céline; Matthews, Adrian D; Targos, Karina; Alektiar, Sara N; Holst, Dylan E; Tan, Zhifeng; Muuronen, Mikko; Diccianni, Justin B; Gómez, José Enrique; Sanders, Kyana M; Guzei, Ilia A; Wickens, Zachary K

Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene

利用VNtyper技术从全外显子组测序数据中检测MUC1基因的致病性变异

Saei, Hassan; Masson, Cécile; Morinière, Vincent; Kachmar, Jessica; Heidet, Laurence; Gribouval, Olivier; Antignac, Corinne; Dorval, Guillaume

Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children

儿童 Denys-Drash 综合征的基因型-表型相关性

Glénisson, Mathilde; Grapin, Mathilde; Blanc, Thomas; Preka, Evgenia; Hogan, Julien; Aurelle, Manon; Roussey, Gwenaëlle; Mouche, Antoine; Rousset-Rouviere, Caroline; Novo, Robert; Faudeux, Camille; Fila, Marc; Vrillon, Isabelle; Cloarec, Sylvie; Simon, Thomas; Harambat, Jérôme; Casado, Edouard Martinez; Rod, Julien; Lecoindre, Morgane Carre; Heidet, Laurence; Boyer, Olivia; Garcelon, Nicolas; Kachmar, Jessica; Dorval, Guillaume; Sarnacki, Sabine