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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1(-/y) mice

Fmr1(-/y)小鼠的V1区与人类脆性X染色体综合征的病理生理特征相似。

Kornfeld-Sylla, Sara S; Gelegen, Cigdem; Norris, Jordan E; Chaloner, Francesca A; Lee, Maia; Khela, Michael; Heinrich, Maxwell J; Finnie, Peter S B; Ethridge, Lauren E; Erickson, Craig A; Schmitt, Lauren M; Cooke, Sam F; Wilkinson, Carol L; Bear, Mark F

The era of autonomous surgical robotics in thoracic surgery: is it coming?

胸外科手术中自主手术机器人的时代:它即将到来吗?

Du, Xin; Huang, Wenbing; Berry, Mark F; Li, Shanqing

Dynamical Buffering of Reconfiguration Dynamics in Intrinsically Disordered Proteins

固有无序蛋白重构动力学的动态缓冲

Ivanović, Miloš T; Holla, Andrea; Nüesch, Mark F; von Roten, Valentin; Schuler, Benjamin; Best, Robert B

Evaluating few-shot prompting for spectrogram-based lung sound classification using a multimodal language model

使用多模态语言模型评估基于频谱图的肺音分类的少样本提示方法

Dietrich, Nicholas; McShannon, David; Rzepka, Mark F

Tetrazine-trans-cyclooctene ligated lanthanide conjugates for biomedical imaging

用于生物医学成像的四嗪-反式-环辛烯配位镧系元素缀合物

Chen, Hongxuan; Lim Kee Chang, William; McMullon, Grace T; Yu, Yichao; Woolley, Benjamin P; Geoghegan, Gráinne; Yalcin, Ceren; Morse, Sophie V; Lythgoe, Mark F; Choi, James J; Long, Nicholas J

Defining substrate specificities of human RNA capping methyltransferases through quantitative assessment of independent yet cooperative activities.

通过对独立但协同活性的定量评估,确定人类 RNA 加帽甲基转移酶的底物特异性。

Taherian Fatemeh, Mabanglo Mark F, Hajian Taraneh, Tucker Sarah, Kalinic Emilija, Perveen Sumera, Aman Ahmed, Vedadi Masoud

The impact of testosterone on paraventricular nucleus gene expression in male and female spontaneously hypertensive rats

睾酮对雄性和雌性自发性高血压大鼠室旁核基因表达的影响

Paterson, Alex; Loh, Su-Yi; Gholami, Shadi Kadijeh; Rogers, Mark F; Murugan, Dharmani Devi; Sau-Kuen, Lam; Mustafa, Mohammad Rais; Ott, Benjamin P; Balaratnam, Prusha; Mecawi, Andre S; Murphy, David; Hindmarch, Charles C T

Image quality in ultra-low-dose chest CT versus chest x-rays guiding paediatric cystic fibrosis care

超低剂量胸部CT与胸部X光片在指导儿童囊性纤维化治疗中的图像质量比较

Moore, Niamh; O'Regan, Patrick; Young, Rena; Curran, Grainne; Waldron, Michael; O'Mahony, Alex; Suleiman, Mo'ayyad E; Murphy, Mary Jane; Maher, Michael; England, Andrew; McEntee, Mark F

A randomized clinical trial to assess the effectiveness of thermal ablation versus loop electrosurgical excision procedure for cervical cancer risk reduction in women living with HIV in Mozambique

一项随机临床试验,旨在评估热消融术与环形电切术在降低莫桑比克艾滋病毒感染女性宫颈癌风险方面的有效性。

Fallah, Parisa N; Salcedo, Mila P; Nhacule, Edna; Utui, Yolanda; Massinga, Marcia M; Osman, Nafissa B; Tivir, Guilhermina G; Carrilho, Carla; Monteiro, Eliane; Rangeiro, Ricardina; Neves, Andrea; Changule, Dercia; Mariano, Arlete; Machaze, Alberto; Castiano, Celso E; Baker, Ellen; Jeronimo, Jose; Chiao, Elizabeth Y; Munsell, Mark F; Varon, Melissa L; Milan, Jessica; Thomas, Joseph P; Richards-Kortum, Rebecca; Lorenzoni, Cesaltina; Omar Viegas, Edna N; Castle, Philip E; Schmeler, Kathleen M