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

Enhancing rare disease guideline development with real-world data: a method evaluation

利用真实世界数据改进罕见病指南制定:一种方法评估

Irvine, Willemijn; van der Kamp, Linde Margriet; Spivack, Olivia; Benachi, Alexandra; Mesas Burgos, Carmen; Bakx, Roel; Gaasterland, Charlotte; Wijnen, Rene

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

扩大TRPV6变异体与眼部异常相关的产前表型谱

Leyne, Edouard; Martinovic, Jelena; Kamenický, Peter; Linglart, Agnès; Saada, Julien; Benachi, Alexandra; Vivanti, Alexandre J; Bouligand, Jérôme

Effect of increased oxytocin doses on the mode of delivery in obese primiparous women with spontaneous or induced labour. A double-blind, randomised, controlled trial (PROXYMA)

增加催产素剂量对肥胖初产妇自然分娩或引产分娩方式的影响:一项双盲、随机、对照试验(PROXYMA)

Carrara, Julie; Vivanti, Alexandre J; Pizzagalli, Franck; Chastrusse, Mélanie; Bouyer, Jean; Benachi, Alexandra

Histologic and molecular features shared between antibody-mediated rejection of kidney allografts and chronic histiocytic intervillositis support common pathogenesis.

抗体介导的肾移植排斥反应与慢性组织细胞性绒毛间炎在组织学和分子特征上存在共同之处,这支持了二者共同的发病机制

Albersammer Léonie, Leon Juliette, Martinovic Jelena, Dagobert Jessy, Lebraud Emilie, Bessières Bettina, Loeuillet Laurence, Eloudzeri Maëva, Vivanti Alexandre J, Dumery Grégoire, Marchaudon Valérie, Antal Cristina, Korganow Anne-Sophie, Quibel Thibaud, Costedoat-Chalumeau Nathalie, Tsatsaris Vassilis, Benachi Alexandra, Zuber Julien, Rabant Marion

Pregnancy-Related Complications in Osteogenesis Imperfecta

成骨不全症的妊娠相关并发症

Collier, Mathis; Hannoun, Pierre; Cormier-Daire, Valérie; Treluyer, Jean-Marc; Benachi, Alexandra; Koumakis, Eugénie

Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey

罕见病和低发病率疾病中与妊娠相关的问题:ERN妊娠和计划生育横向工作组调查结果

Zucchi, Dina; Marinello, Diana; Tani, Chiara; Fulvio, Giovanni; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Borgards, Petra; Boiteux, Marie-Claude; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, Joao E; Fredi, Micaela; Iotova, Violeta; Louisse, Simone; Nalli, Cecilia; Onali, Michela; Power, Beverley; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; Vieira, Ana; Capela, Susana; Dan, Dorica; De Backer, Julie; de Die-Smulders, Christine; Dufke, Andreas; Artzner, Estelle Lecointe; Limongelli, Giuseppe; Lorenz, Birgit; Papenthin, Wiebke; Pascau, María Jesús; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Röhl, Claas; Schneider, Holm; Yap, Tet; Talarico, Rosaria; Mosca, Marta

Postpartum maternal thrombophilia workup value in pregnancies with severe small for gestational age

产后母体血栓形成倾向检查对严重小于胎龄儿妊娠的价值

Abgral, Maëlig; Desconclois, Céline; Prevot, Sophie; Monier, Isabelle; Sterpu, Raluca; Benachi, Alexandra; Vivanti, Alexandre J

Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings

胎儿固有气道梗阻(CHAOS)的评估:超声、胎儿镜和病理学发现之间的相关性

Laporte, Claire; Martinovic, Jéléna; Patrier, Sophie; Thierry, Briac; Mediouni, Imen; Saada, Julien; Brasseur-Daudruy, Marie; Etienne, Martin; Dumery, Grégoire; Benachi, Alexandra

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group

产前外显子组测序的应用:法国人类遗传学联合会工作组意见声明

Cogan, Guillaume; Troadec, Marie-Bérengère; Devillard, Françoise; Saint-Frison, Marie-Hélène; Geneviève, David; Vialard, François; Rial-Sebbag, Emmanuelle; Héron, Delphine; Attie-Bitach, Tania; Benachi, Alexandra; Saugier-Veber, Pascale

Specific airway resistance according to early maternal vitamin D status during pregnancy in children aged 5 to 6 years old from the FEPED cohort (RESPIFEPED)

FEPED队列中5至6岁儿童根据孕早期母亲维生素D状况的特定气道阻力(RESPIFEPED)

Gonsard, Apolline; Marquant, Fabienne; Elie, Caroline; Le Bourgeois, Muriel; Houdouin, Véronique; Delclaux, Christophe; Beydon, Nicole; Bellino, Adèle; Souberbielle, Jean-Claude; Sermet-Gaudelus, Isabelle; Delacourt, Christophe; Benachi, Alexandra; Hadchouel, Alice