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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

Sex matters in CSU: Women face greater burden and poorer urticaria control, especially in midlife-CURE insights

性别在慢性荨麻疹中扮演着重要角色:女性面临更大的负担和更差的荨麻疹控制,尤其是在中年时期——CURE 的见解

Kocatürk, Emek; Salameh, Pascale; Asero, Riccardo; Bizjak, Mojca; Gimenez-Arnau, Ana; Grattan, Clive; Pesqué, David; Planella-Fontanillas, Nidia; Herzog, Leonie Shirin; Buttgereit, Thomas; Bonnekoh, Hanna; Fomina, Daria; Kovalkova, Elena; Lebedkina, Marina; Kasperska-Zajac, Alicja; Zając, Magdalena; Zamłyński, Mateusz; Kulthanan, Kanokvalai; Tuchinda, Papapit; Khoshkhui, Maryam; Hassanpour, Zohreh; Peter, Jonny; Du-Thanh, Aurelie; Meshkova, Raisa; Abuzakouk, Mohamed; Makris, Michael; Bouillet, Laurence; Bocquet, Alexis; Gregoriou, Stamatios; Thomsen, Simon Francis; Dissemond, Joachim; Staubach, Petra; Bauer, Andrea; Danilycheva, Inna; van Doorn, Martijn; Parisi, Claudio; Metz, Martin; Fluhr, Joachim W; Zuberbier, Torsten; Weller, Karsten; Kolkhir, Pavel

Multi-Orbital Charge Transfer into Nonplanar Cycloarenes Revealed with CO-Functionalized STM Tips

利用共功能化扫描隧道显微镜探针揭示非平面环芳烃的多轨道电荷转移

Haags, Anja; Reichmann, Alexander; Ruan, Zilin; Fan, Qitang; Egger, Larissa; Kirschner, Hans; Naumann, Tim; Werner, Simon; Kleykamp, Olaf; Martinez Castro, Jose; Lüpke, Felix; Bocquet, François C; Kumpf, Christian; Soubatch, Serguei; Gottwald, Alexander; Koller, Georg; Ramsey, Michael G; Richter, Mathias; Sundermeyer, Jörg; Puschnig, Peter; Gottfried, J Michael; Tautz, F Stefan; Wenzel, Sabine

Treatment patterns and clinical outcomes in chemotherapy-treated patients with HR+/HER2- metastatic breast cancer using real-world data in France and Germany

利用法国和德国的真实世界数据,分析接受化疗的HR+/HER2-转移性乳腺癌患者的治疗模式和临床结果

Campone, Mario; Frenel, Jean-Sebastien; Kiver, Verena I I; Woeckel, Achim; Kerscher, Alexander; Krebs, Markus; Leal, Cátia; Saglimbene, Valeria M; Ann, Quratul; Sadetsky, Natalia; Sjekloca, Nikoleta; Libert, Olivier; Kaushik, Ankita; Bocquet, Francois

Applying medical hypnosis in the management of atopic dermatitis in children and young adolescents: study protocol for a pilot cluster randomised controlled trial (Hypno-AD)

应用医学催眠疗法治疗儿童和青少年特应性皮炎:一项试点整群随机对照试验(Hypno-AD)的研究方案

Thysebaert, Zoé; Espagnon, Camille; Bocquet, Valéry; Bruneau, Léa; Miquel, Juliette

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Development and Assessment of a Pipeline for Extracting Structured Data From Free-Text Medical Reports Using a Large Language Model

利用大型语言模型开发和评估从自由文本医疗报告中提取结构化数据的流程

Joseph, Enzo; Vallee, Paul; Perennec, Tanguy; Wagneur, Nicolas; Frenel, Jean-Sébastien; Campone, Mario; Bocquet, François; Le Borgne, Florent

Highly Structure-Selective On-Surface Synthesis of Isokekulene Versus Kekulene

异克库烯与克库烯的高结构选择性表面合成

Ruan, Zilin; Fan, Qitang; Reichmann, Alexander; Kang, Faming; Naumann, Tim; Werner, Simon; Kleykamp, Olaf; Martinez-Castro, Jose; Lüpke, Felix; Haags, Anja; Bocquet, François C; Kumpf, Christian; Soubatch, Serguei; Sundermeyer, Jörg; Puschnig, Peter; Tautz, F Stefan; Gottfried, J Michael; Wenzel, Sabine

Spontaneous Surface Charging and Janus Nature of the Hexagonal Boron Nitride-Water Interface

六方氮化硼-水界面的自发表面带电和双重性质

Wang, Yongkang; Luo, Haojian; Advincula, Xavier R; Zhao, Zhengpu; Esfandiar, Ali; Wu, Da; Fong, Kara D; Gao, Lei; Hazrah, Arsh S; Taniguchi, Takashi; Schran, Christoph; Nagata, Yuki; Bocquet, Lydéric; Bocquet, Marie-Laure; Jiang, Ying; Michaelides, Angelos; Bonn, Mischa