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

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

Characteristics of sudden cardiac arrest during endurance racing: a decade of the Paris registry

耐力赛期间突发心脏骤停的特征:巴黎登记处十年的数据

Chocron, Richard; Laurenceau, Thomas; Cezard, Pierre; Chabrol, Marion; Mignot, Soline; Meli, Ugo; Langlois, Camille; Schwartz, Peter J; Kääb, Stefan; Levy, Bernard I; Beganton, Frankie; Bougouin, Wulfran; Cariou, Alain; Adnet, Frédéric; Dumas, Florence; Loeb, Thomas; Feral-Piersens, Anne-Laure; Heidet, Matthieu; Jost, Daniel; Empana, Jean-Philippe; Jouven, Xavier

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

Corrigendum to "Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children" [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1205-1212]

对“儿童 Denys-Drash 综合征的基因型-表型相关性”的更正[肾脏国际报告第 10 卷,第 4 期,2025 年 4 月,第 1205-1212 页]

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; Martinerie, Laetitia; Heidet, Laurence; Boyer, Olivia; Garcelon, Nicolas; Kachmar, Jessica; Dorval, Guillaume; Sarnacki, Sabine

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN

阿尔波特综合征的诊断、管理和治疗——2024 年指南(由 ERKNet、ERA 和 ESPN 联合发布)

Torra, Roser; Lipska-Zietkiewicz, Beata; Acke, Frederic; Antignac, Corinne; Becker, Jan Ulrich; Cornec-Le Gall, Emilie; van Eerde, Albertien M; Feltgen, Nicolas; Ferrari, Rossella; Gale, Daniel P; Gear, Susie; Gross, Oliver; Haeberle, Stefanie; Heidet, Laurence; Lennon, Rachel; Massella, Laura; Pfau, Kristina; Pizarro, Maria Del Prado Venegas; Topaloglu, Rezan; Wlodkowski, Tanja; Zealey, Heidi

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

罕见病转诊中心就诊的儿童和青少年妇科问题:一项观察性回顾性队列研究

Cavadias, Iphigénie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloé; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-Dit-Maire, Pierre; Hadj-Rabia, Smaïl; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valérie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Véronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina

Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report

分子遗传学解开两兄弟蛋白尿症状截然不同的谜团:病例报告

Haydock, Ludwig; Dorval, Guillaume; Heidet, Laurence; Knebelmann, Bertrand

The association between the type of bystander and survival after an out-of-hospital cardiac arrest: A French nationwide study

旁观者类型与院外心脏骤停后生存率之间的关联:一项法国全国性研究

Benkerrou, Hizia; Lockhart, Marguerite; Heidet, Matthieu; Azzouz, Ramy; Vilhelm, Christian; Hubert, Hervé; Recher, Morgan; Baert, Valentine