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 single cluster of RNA Polymerase II molecules is stably associated with active genes.

单个RNA聚合酶II分子簇与活性基因稳定结合。

Mukherjee Apratim, Kapoor Manya, Shankta Kareena, Fallacaro Samantha, Carter Raymond D, Hayward-Lara Gabriela, Ratchasanmuang Puttachai, Haloush Yara I, Mir Mustafa

Detection of hearing loss by formal audiological testing after acute infectious meningitis: a global systematic review and meta-analysis

急性感染性脑膜炎后通过正规听力学检查检测听力损失:一项全球系统评价和荟萃分析

Alviz, Luisa F; Kim, Carla Y; Benevides-Tadinac, Ana Claudia; Roberts, Jackson A; Monette, Lauren E; Harrer, Caroline E; Varela, Francisco J; Hwang, Soonmyung A; Gebresilassie, Blen M; Balcarce, Pilar; Prasad, Manya; Usseglio, John; Kothari, Kavita U; Venuti, Francesco; Schiess, Nicoline; Gadama, Yohane; Binello, Nicolò; Chadha, Shelly; Dua, Tarun; Thakur, Kiran T

Detection of sequelae from acute meningitis during clinical review by a healthcare provider: a systematic review and meta-analysis

医疗保健提供者在临床评估中对急性脑膜炎后遗症的检测:系统评价和荟萃分析

Alviz, Luisa F; Kim, Carla Y; Monette, Lauren E; Harrer, Caroline E; Benevides-Tadinac, Ana Claudia; Roberts, Jackson A; Varela, Francisco J; Hwang, Soonmyung A; Gebresilassie, Blen M; Balcarce, Pilar; Prasad, Manya; Usseglio, John; Kothari, Kavita U; Venuti, Francesco; Schiess, Nicoline; Binello, Nicolò; Brohan, Elaine; Dua, Tarun; Thakur, Kiran T

Adverse Childhood Experiences Predict Treatment Drop Out in Adolescents and Young Adults With Eating Disorders

童年期不良经历可预测青少年和年轻成人饮食障碍患者的治疗中断情况

Lindenbach, David; Austin, Amelia; Singh, Manya; Trebilcock, Abigail; Bhattarai, Asmita; Marcoux, Gisele; Dimitropoulos, Gina

Enzymatic basis of branching and extension of O-Man glycans for keratan sulfate biosynthesis

硫酸角质素生物合成中O-甘露糖聚糖分支和延伸的酶促基础

Itoh, Tomoya; Tanaka, Hide-Nori; Pareek, Mohit; Nagae, Masamichi; Manya, Hiroshi; Ido, Akemi; Mishra, Sushil K; Kizuka, Yasuhiko

Diabetic Retinopathy Prevalence and Incidence in Zimbabwe: The Feasibility of Digital Fundoscopy Screening

津巴布韦糖尿病视网膜病变患病率和发病率:数字眼底镜筛查的可行性

Mutengerere, Alvern N; Musengi, Adrian T M; Kawome, Martina; Madzeke, Kudakwashe; Mirchandani, Manya; Ng, Alvin; Ruckstuhl, Laura E

Burden of chronic obstructive pulmonary disease among Indian adults: systematic review and meta‑analysis

印度成年人慢性阻塞性肺疾病负担:系统评价和荟萃分析

Halder, Pritam; Khaiwal, Ravindra; Goel, Sonu; Kumar, Nikhil; Sarkar, Madhura; Soni, Manya; Nongkynrih, Baridalyne; Prabhakar, Manish Chandra; Mamgai, Anshul; Rathor, Shivani

A Multimodal Single-Cell Epigenomic and 3D Genome Atlas of the Human Basal Ganglia

人类基底神经节的多模态单细胞表观基因组和3D基因组图谱

Ding, Wubin; Klein, Amit; Báez-Becerra, Cindy Tatiana; Rink, Jonathan A; Bartlett, Anna; Zeng, Qiurui; Wang, Ruoxuan; Castanon, Rosa Gomez; Nery, Joseph R; Osgood, Emma; Owens, William; Petrella, Alaina; Chen, Chumo; Acerbo, Andrea Saldana; Barcoma, Ariana S; Liu, Jiayi; Russo, Kaitlyn G; Knutson, Kyle W; Young, Carissa K; Willier, Jackson K; Barragan, Cesar; Arzavala, Jessica; Cho, Silvia; Altshul, Jordan; Chan, Derek; Soma, Eshaan; Luo, Jammy; Jain, Manya; Velazquez, Sarah; Schenker-Ahmed, Natalie; Sundaram, Guha V; Manning, Austin C; Sanchez, Yareli; Bikkina, Aleksandra; Fu, Shuai; O'Connor, Carolyn; Liem, Michelle; Marrin, Mikayla V; Rose, Cynthia; Alt, Shane N; Berry, Jillian; Kern, Colin; Boone, Eric; Tian, Wei; Wu, Yue; Hariharan, Manoj; Fu, Yuanyuan; Xie, Yang; Li, Kai; Chang, Lei; Zhang, Wenjin; Chen, Huamin; Johansen, Nelson; Zhao, Zoey; Flores, Jesus; Tai, Chu-Yi; Olness, Jacquelin; Zhu, Quan; Hodge, Rebecca D; Bakken, Trygve E; Lein, Ed S; Li, Daofeng; Wang, Ting; Xu, Xiangmin; Ren, Bing; Behrens, Maria Margarita; Ecker, Joseph R

Estimation of Prevention-Effective CAB-LA Concentrations Among Men Who Have Sex With Men (MSM) and Transgender Women (TGW) in HPTN 083

HPTN 083 中男男性行为者 (MSM) 和跨性别女性 (TGW) 预防有效 CAB-LA 浓度的估计

Hanscom, Brett; Marzinke, Mark A; Li, Xinnong; Donnell, Deborah; Bies, Robert; Hendrix, Craig W; Wang, Zhe; Acuipil, Carolina; Rinehart, Alex; Collins, Jon W; Rooney, James F; Soto Torres, Lydia; Richardson, Paul; Chariyalerstsak, Suwat; Valdez Ramalho Madruga, Jose; Hurt, Christopher B; Magnus, Manya; Frank, Ian; McCauley, Marybeth; Grinsztejn, Beatriz; Landovitz, Raphael J