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

Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies

母亲既往糖尿病:先天性心脏病的非遗传性危险因素

Ibrahim, Stéphanie; Gaborit, Bénédicte; Lenoir, Marien; Collod-Beroud, Gwenaelle; Stefanovic, Sonia

Highlighting the Dystonic Phenotype Related to GNAO1

重点关注与GNAO1相关的肌张力障碍表型

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando Jr; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu

Heterodimeric Insecticidal Peptide Provides New Insights into the Molecular and Functional Diversity of Ant Venoms

异二聚杀虫肽为蚂蚁毒液的分子和功能多样性提供了新的见解

Axel Touchard, Helen C Mendel, Isabelle Boulogne, Volker Herzig, Nayara Braga Emidio, Glenn F King, Mathilde Triquigneaux, Lucie Jaquillard, Rémy Beroud, Michel De Waard, Olivier Delalande, Alain Dejean, Markus Muttenthaler, Christophe Duplais

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

拉布拉多犬品系中的X连锁肌营养不良症:表型和分子特征

Barthélémy, Inès; Calmels, Nadège; Weiss, Robert B; Tiret, Laurent; Vulin, Adeline; Wein, Nicolas; Peccate, Cécile; Drougard, Carole; Beroud, Christophe; Deburgrave, Nathalie; Thibaud, Jean-Laurent; Escriou, Catherine; Punzón, Isabel; Garcia, Luis; Kaplan, Jean-Claude; Flanigan, Kevin M; Leturcq, France; Blot, Stéphane

Identification, Characterization and Synthesis of Walterospermin, a Sperm Motility Activator from the Egyptian Black Snake Walterinnesia aegyptia Venom

埃及黑蛇 Walterinnesia aegyptia 毒液中精子活力激活剂 Walterospermin 的鉴别、表征和合成

Tarek Mohamed Abd El-Aziz, Lucie Jaquillard, Sandrine Bourgoin-Voillard, Guillaume Martinez, Mathilde Triquigneaux, Claude Zoukimian, Stéphanie Combemale, Jean-Pascal Hograindleur, Sawsan Al Khoury, Jessica Escoffier, Sylvie Michelland, Philippe Bulet, Rémy Beroud, Michel Seve, Christophe Arnoult, M

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

苍白球深部脑刺激治疗DYT6肌张力障碍:临床疗效及运动功能改善的预测因素

Danielsson, Annika; Carecchio, Miryam; Cif, Laura; Koy, Anne; Lin, Jean-Pierre; Solders, Göran; Romito, Luigi; Lohmann, Katja; Garavaglia, Barbara; Reale, Chiara; Zorzi, Giovanna; Nardocci, Nardo; Coubes, Philippe; Gonzalez, Victoria; Roubertie, Agathe; Collod-Beroud, Gwenaelle; Lind, Göran; Tedroff, Kristina

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

钙调蛋白和放射状辐条相关复合蛋白 CFAP251 的缺失导致精子缺乏线粒体而无法活动,导致男性不育

Yasmina Auguste, Valérie Delague, Jean-Pierre Desvignes, Guy Longepied, Audrey Gnisci, Pierre Besnier, Nicolas Levy, Christophe Beroud, André Megarbane, Catherine Metzler-Guillemain, Michael J Mitchell

New advances in DPYD genotype and risk of severe toxicity under capecitabine

DPYD基因型与卡培他滨治疗下严重毒性风险的新进展

Etienne-Grimaldi, Marie-Christine; Boyer, Jean-Christophe; Beroud, Christophe; Mbatchi, Litaty; van Kuilenburg, André; Bobin-Dubigeon, Christine; Thomas, Fabienne; Chatelut, Etienne; Merlin, Jean-Louis; Pinguet, Frédéric; Ferrand, Christophe; Meijer, Judith; Evrard, Alexandre; Llorca, Laurence; Romieu, Gilles; Follana, Philippe; Bachelot, Thomas; Chaigneau, Loic; Pivot, Xavier; Dieras, Véronique; Largillier, Rémy; Mousseau, Mireille; Goncalves, Anthony; Roché, Henri; Bonneterre, Jacques; Servent, Véronique; Dohollou, Nadine; Château, Yann; Chamorey, Emmanuel; Desvignes, Jean-Pierre; Salgado, David; Ferrero, Jean-Marc; Milano, Gérard

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

临床实用基因卡,适用于:遗传性胸主动脉瘤和夹层,包括基于下一代测序的方法

Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Charron, Philippe; Child, Anne H; Collod-Beroud, Gwenaelle; De Backer, Julie; De Paepe, Anne; Dierking, Anna; Faivre, Laurence; Hoffjan, Sabine; Jondeau, Guillaume; Keyser, Britta; Loeys, Bart; Mayer, Karin; Robinson, Peter N; Schmidtke, Jörg

Correction: Dispelling myths about rare disease registry system development

更正:澄清关于罕见病登记系统开发的误解

Bellgard, Matthew; Beroud, Christophe; Parkinson, Kay; Harris, Tess; Ayme, Segolene; Baynam, Gareth; Weeramanthri, Tarun; Dawkins, Hugh; Hunter, Adam