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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Widespread increase in frequency and duration of European wind droughts based on CMIP6 projections

根据CMIP6预测,欧洲风灾干旱的频率和持续时间将普遍增加。

Mostue, Idunn Aamnes; Valenzuela-Venegas, Guillermo; Banos, David Ruiz; Storelvmo, Trude; Zeyringer, Marianne

Current Status and Developments in Biodosimetry Research in India

印度生物剂量学研究的现状与进展

Nguyen, Ha; Lehmann, Mathias; Morf, Daniel; Luce, Jason; Keeler, Andrew; Kang, Hyejoo; Roeske, John C; Al-Assil, Talal; Han, John; Kim, Evan; Seneriches, John; Hasan, Nazmul; Mahor, Deepak; Saini, Vinay; Tsuda, Norisato; Zulaikho, Siti; Prameswara, Ilga Pradipta Dyah; Nelly; Dimitri, Frasisca Yulia; Putri, Erlinda Ratnasari; Azzi, Akbar; Jayadevan, P M; Sudesh; Shine, N S; Nithin, K; Arathi, S; Baba, Ainain; Baba, Obair Yousuf; Ahmad, Abid; Shahid, Misbah; Patil, Deepali; Zope, Mukesh Kumar; Raj, Rishi; Devi, Seema; Bufacchi, Antonella; Pasciuti, Katia; Rezkallah, Emad Mofid Nassif; Perakath, Benjamin; Sharma, Amandeep; Poonamjot; Kaur, Simranpreet; Thumyongkit, Napatsorn; Puttanawarut, Chanon; Suphaphong, Sithiphong; Worapruekjaru, Ladawan; Earwong, Pareena; Asavaphatiboon, Sawwanee; Stansook, Nauljun; Khachonkham, Suphalak; Jadhav, Ananda Ramchandra; Wategoankar, Sandeep B; Shinde, Vaishali R; Patil, Sarita; Saputra, Eka; Anam, Choirul; Triadyaksa, Pandji; Naufal, Ariij; Kumar, Bitesh; Jain, Vishesh; Yadav, Devendra Kumar; Dhua, Anjan Kumar; Goel, Prabudh; Jain, Divya; Singh, Shubhendu; Joseph, Seeja; Kumar, P Raghu; Bhasi, Saju; Thankachan, Nicy Maria; Swathi, R; Anilkumar, K; Asavaphatiboon, Sawwanee; Payomthip, Suwadee; Sodkokkruad, Prapa; Prasertsilpakul, Wichan; Iamsuk, Tossaporn; Ardmontree, Saifhon; Tangboonduangjit, Puangpen; Allah, Amine Walia; Younous, Khaoula; Essagar, Mohamed; Sebihi, Rajaa; Kaafarani, Hussein; Banos-Capilla, Maria Carmen; Lago-Martin, Jose Domingo; Gil, Patricia; de la Zerda, Alberto; Padgett, Kyle R; Studenski, Matthew; Both, Joseph; Sensoy, Levent; Peng, Jiayuan; Lu, Mengyang; Cai, Bin; Hu, Weigang; Zhou, Qingli; Liu, Xin; Gornale, Shivanand S; Patil, Supriya Shankar; Deo, Anup Waman; Athani, Abdulgaphur; Hajare, Raghavendra; Vadgaonkar, Rohit Avinash; Kaginelli, Shanmukhappa B; Chowdhury, Man Gobinda; Sahoo, Debasish; Kale, Shrikant; Miriyala, Ravi Teja; Mahantshetty, Umesh; Li, Yanxian; Sang, Jun; Li, Xuemei; Ding, Wenjing; Yang, Chunyan; Yang, Zheng; Zhao, Shiping; Liu, Yanfang; Mondal, Kalyan; Mandal, Abhijit; Vijay, Anuj; Patel, Ganeshkumar; Sholaiman, M; Islam, Md Raihan; Islam, M Rafiqul; Haque, M M; Agulles-Pedrós, Luis; MacDonald, Robert Lee; Cherpak, Amanda J; Dixit, Nayha; Dong, Lei; Zhao, Tianyu; Thind, Kundan; Doemer, Anthony; Teo, Boon-Keng; Su, Shiqin; Moncion, Alexander; Robar, James L; Pathak, Ranjana; Goel, Anjana; Mukherjee, Archana

Commercial or industrial use of mental health data for research: primer and best-practice guidelines from the DATAMIND patient/public Lived Experience Advisory Group

心理健康数据在商业或工业领域的研究用途:DATAMIND 患者/公众亲身经历咨询小组的入门指南和最佳实践指南

Jones, Linda A; Barber, Corrine; Clements-Brod, Naomi; Davies, Jan; DelPozo-Banos, Marcos; Hughes, Andrea; Iveson, Matthew H; Jain, Diksha; John, Ann; Maguire, Aideen; Martins de Barros, Clara; McIntosh, Andrew M; McTernan, Michael; Speechley, Jan; Stewart, Robert J; Taylor, Jane; Ting, Louise; Cardinal, Rudolf N

The sex-biased chromatin modifier SMC1A promotes autoimmunity by shaping inflammatory pathways in patients with SLE

性别偏向性染色质修饰因子SMC1A通过调控系统性红斑狼疮患者的炎症通路促进自身免疫。

Despoina Kosmara # ,Sofia Papanikolaou # ,Chrysoula Stathopoulou ,Dionysios Papamatheakis ,Giannis Vatsellas ,Arianna Cimmarrusti ,Aggelos Banos ,Prodromos Sidiropoulos ,Matthieu D Lavigne ,Panayotis Verginis ,Dimitrios Boumpas ,Charalampos Spilianakis ,Dimitris Konstantopoulos ,Christoforos Nikolaou ,George Bertsias

Machine-Learning-Driven Reconstruction of Organic Aerosol Sources across Dense Monitoring Networks in Europe

利用机器学习技术重建欧洲密集监测网络中的有机气溶胶源

Jouanny, Adrien; Upadhyay, Abhishek; Jiang, Jianhui; Vasilakos, Petros; Via, Marta; Cheng, Yun; Flueckiger, Benjamin; Uzu, Gaëlle; Jaffrezo, Jean-Luc; Voiron, Céline; Favez, Olivier; Chebaicheb, Hasna; Bourin, Aude; Font, Anna; Riffault, Véronique; Freney, Evelyn; Marchand, Nicolas; Chazeau, Benjamin; Conil, Sébastien; Petit, Jean-Eudes; de la Rosa, Jesús D; de la Campa, Ana Sanchez; Navarro, Daniel Sanchez-Rodas; Castillo, Sonia; Alastuey, Andrés; Querol, Xavier; Reche, Cristina; Minguillón, María Cruz; Maasikmets, Marek; Keernik, Hannes; Giardi, Fabio; Colombi, Cristina; Cuccia, Eleonora; Gilardoni, Stefania; Rinaldi, Matteo; Paglione, Marco; Poluzzi, Vanes; Massabò, Dario; Belis, Claudio; Grange, Stuart; Hueglin, Christoph; Canonaco, Francesco; Tobler, Anna; Timonen, Hilkka J; Aurela, Minna; Ehn, Mikael; Stavroulas, Iasonas; Bougiatioti, Aikaterini; Eleftheriadis, Konstantinos; Gini, Maria I; Zografou, Olga; Manousakas, Manousos-Ioannis; Chen, Gang Ian; Green, David Christopher; Pokorná, Petra; Vodička, Petr; Lhotka, Radek; Schwarz, Jaroslav; Schemmel, Andrea; Atabakhsh, Samira; Herrmann, Hartmut; Poulain, Laurent; Flentje, Harald; Heikkinen, Liine; Kumar, Varun; Denier van der Gon, Hugo Anne; Aas, Wenche; Platt, Stephen M; Yttri, Karl Espen; Salma, Imre; Vasanits, Anikó; Bergmans, Benjamin; Sosedova, Yulia; Necki, Jaroslaw; Ovadnevaite, Jurgita; Lin, Chunshui; Pauraite, Julija; Pikridas, Michael; Sciare, Jean; Vasilescu, Jeni; Belegante, Livio; Alves, Célia; Slowik, Jay G; Probst-Hensch, Nicole; Vienneau, Danielle; Prévôt, André S H; Medbouhi, Aniss Aiman; Banos, Daniel Trejo; de Hoogh, Kees; Daellenbach, Kaspar R; Krymova, Ekaterina; El Haddad, Imad

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

Dexamethasone added to induction and post-remission therapy in older patients with newly diagnosed acute myeloid leukemia: a multicenter, phase II trial (DEXAML-02)

在老年新诊断急性髓系白血病患者的诱导和缓解后治疗中加入地塞米松:一项多中心 II 期试验 (DEXAML-02)

Bertoli, Sarah; Bérard, Emilie; Peterlin, Pierre; Guieze, Romain; Desbrosses, Yohan; Hicheri, Yosr; Benbrahim, Omar; Carre, Martin; Orvain, Corentin; Banos, Anne; Bernard, Marc; Gyan, Emmanuel; Saad, Alain; Chebrek, Safia; Guepin, Gabrielle Roth; Dorvaux, Veronique; Sanhes, Laurence; Gallego-Hernanz, Maria Pilar; Exbrayat, Carole; Vincent, Laure; Himberlin, Chantal; Simand, Célestine; Vey, Norbert; Fenoll, Cindy; Mineur, Ariane; Huynh, Anne; Vergez, Francois; Luquet, Isabelle; Largeaud, Laetitia; Delabesse, Eric; Pigneux, Arnaud; Récher, Christian

Brentuximab vedotin addition to gemcitabine in relapsed or refractory peripheral T-cell lymphoma: a LYSA phase 2 study

布伦妥昔单抗联合吉西他滨治疗复发或难治性外周T细胞淋巴瘤:一项LYSA II期研究

Tournilhac, Olivier; Bouabdallah, Kamal; Lecolant, Solène; Hacini, Maya; Laribi, Kamel; Bailly, Sébastien; Belmondo, Thibaut; Maerevoet, Marie; Ysebaert, Loic; Guidez, Stéphanie; Le Gouill, Steven; Bonnet, Christophe; André, Marc; Dupuis, Jehan; Thieblemont, Catherine; Bachy, Emmanuel; Daguindau, Nicolas; Morschhauser, Franck; Tricot, Sabine; Moulin, Charline; Banos, Anne; Houot, Roch; Chauchet, Adrien; Gyan, Emmanuel; Cartron, Guillaume; Farhat, Hassan; Camus, Vincent; Drenou, Bernard; Zerazhi, Hacene; Sibon, David; Nicolas-Virelizier, Emmanuelle; Delette, Caroline; Snauwaert, Sylvia; Bailly, Sarah; Delarue, Richard; Carras, Sylvain; Ledoux-Pilon, Albane; Parrens, Marie-Cécile; Griolet, Samuel; Gaulard, Philippe; Delfau-Larue, Marie-Hélène; de Leval, Laurence; Damaj, Gandhi Laurent