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

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

单亲同源二体:弗里德赖希共济失调新机制的案例研究

Sperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; de Sainte Agathe, Jean-Madeleine; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia

Scoping review on the embryonic developmental potential of tripronuclear zygotes and their use for clinical and research purposes

对三原核合子的胚胎发育潜能及其在临床和研究用途中的应用进行范围界定综述

Mayeur, Anne; Ouaziz, Khadija; Sperelakis-Beedham, Brian; Rubens, Paula; Gigarel, Nadine; Steffann, Julie; Frydman, Nelly

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, Myriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; de Sainte Agathe, Jean-Madeleine; Fuerte, Edith P Almanza; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stephanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Weirauch, Nathalie Bednark; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bramswig, Nuria C; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Buratti, Julien; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Conrad, Solène; Courtin, Thomas; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Denommé-Pichon, Anne-Sophie; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; Chehadeh, Salima El; 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; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Héron, Bénédicte; Héron, Delphine; Heulin, Mathilde; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Jousselin, Kevin; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Bricquir, Floriane Le; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian; Mansour-Hendili, Lamisse; Maraval, Julien; Mattausch, Carolin; 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, Valerie; Õunap, Katrin; Pais, Lynn S; Paluch, Robin; 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; Rupin, Mailys; Saugier-Veber, Pascale; Saneto, Russell; Sarrazin, Elisabeth; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir; Smol, Thomas; Sunyaev, Shamil; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylene; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; 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

Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis

加速药物研发合作组织®精神分裂症(AMP® SCZ):全球最大规模的精神病临床高危人群前瞻性队列研究的理论基础和研究设计

Wannan, Cassandra M J; Nelson, Barnaby; Addington, Jean; Allott, Kelly; Anticevic, Alan; Arango, Celso; Baker, Justin T; Bearden, Carrie E; Billah, Tashrif; Bouix, Sylvain; Broome, Matthew R; Buccilli, Kate; Cadenhead, Kristin S; Calkins, Monica E; Cannon, Tyrone D; Cecci, Guillermo; Chen, Eric Yu Hai; Cho, Kang Ik K; Choi, Jimmy; Clark, Scott R; Coleman, Michael J; Conus, Philippe; Corcoran, Cheryl M; Cornblatt, Barbara A; Diaz-Caneja, Covadonga M; Dwyer, Dominic; Ebdrup, Bjørn H; Ellman, Lauren M; Fusar-Poli, Paolo; Galindo, Liliana; Gaspar, Pablo A; Gerber, Carla; Glenthøj, Louise Birkedal; Glynn, Robert; Harms, Michael P; Horton, Leslie E; Kahn, René S; Kambeitz, Joseph; Kambeitz-Ilankovic, Lana; Kane, John M; Kapur, Tina; Keshavan, Matcheri S; Kim, Sung-Wan; Koutsouleris, Nikolaos; Kubicki, Marek; Kwon, Jun Soo; Langbein, Kerstin; Lewandowski, Kathryn E; Light, Gregory A; Mamah, Daniel; Marcy, Patricia J; Mathalon, Daniel H; McGorry, Patrick D; Mittal, Vijay A; Nordentoft, Merete; Nunez, Angela; Pasternak, Ofer; Pearlson, Godfrey D; Perez, Jesus; Perkins, Diana O; Powers, Albert R 3rd; Roalf, David R; Sabb, Fred W; Schiffman, Jason; Shah, Jai L; Smesny, Stefan; Spark, Jessica; Stone, William S; Strauss, Gregory P; Tamayo, Zailyn; Torous, John; Upthegrove, Rachel; Vangel, Mark; Verma, Swapna; Wang, Jijun; Rossum, Inge Winter-van; Wolf, Daniel H; Wolff, Phillip; Wood, Stephen J; Yung, Alison R; Agurto, Carla; Alvarez-Jimenez, Mario; Amminger, Paul; Armando, Marco; Asgari-Targhi, Ameneh; Cahill, John; Carrión, Ricardo E; Castro, Eduardo; Cetin-Karayumak, Suheyla; Mallar Chakravarty, M; Cho, Youngsun T; Cotter, David; D'Alfonso, Simon; Ennis, Michaela; Fadnavis, Shreyas; Fonteneau, Clara; Gao, Caroline; Gupta, Tina; Gur, Raquel E; Gur, Ruben C; Hamilton, Holly K; Hoftman, Gil D; Jacobs, Grace R; Jarcho, Johanna; Ji, Jie Lisa; Kohler, Christian G; Lalousis, Paris Alexandros; Lavoie, Suzie; Lepage, Martin; Liebenthal, Einat; Mervis, Josh; Murty, Vishnu; Nicholas, Spero C; Ning, Lipeng; Penzel, Nora; Poldrack, Russell; Polosecki, Pablo; Pratt, Danielle N; Rabin, Rachel; Rahimi Eichi, Habiballah; Rathi, Yogesh; Reichenberg, Avraham; Reinen, Jenna; Rogers, Jack; Ruiz-Yu, Bernalyn; Scott, Isabelle; Seitz-Holland, Johanna; Srihari, Vinod H; Srivastava, Agrima; Thompson, Andrew; Turetsky, Bruce I; Walsh, Barbara C; Whitford, Thomas; Wigman, Johanna T W; Yao, Beier; Yuen, Hok Pan; Ahmed, Uzair; Byun, Andrew Jin Soo; Chung, Yoonho; Do, Kim; Hendricks, Larry; Huynh, Kevin; Jeffries, Clark; Lane, Erlend; Langholm, Carsten; Lin, Eric; Mantua, Valentina; Santorelli, Gennarina; Ruparel, Kosha; Zoupou, Eirini; Adasme, Tatiana; Addamo, Lauren; Adery, Laura; Ali, Munaza; Auther, Andrea; Aversa, Samantha; Baek, Seon-Hwa; Bates, Kelly; Bathery, Alyssa; Bayer, Johanna M M; Beedham, Rebecca; Bilgrami, Zarina; Birch, Sonia; Bonoldi, Ilaria; Borders, Owen; Borgatti, Renato; Brown, Lisa; Bruna, Alejandro; Carrington, Holly; Castillo-Passi, Rolando I; Chen, Justine; Cheng, Nicholas; Ching, Ann Ee; Clifford, Chloe; Colton, Beau-Luke; Contreras, Pamela; Corral, Sebastián; Damiani, Stefano; Done, Monica; Estradé, Andrés; Etuka, Brandon Asika; Formica, Melanie; Furlan, Rachel; Geljic, Mia; Germano, Carmela; Getachew, Ruth; Goncalves, Mathias; Haidar, Anastasia; Hartmann, Jessica; Jo, Anna; John, Omar; Kerins, Sarah; Kerr, Melissa; Kesselring, Irena; Kim, Honey; Kim, Nicholas; Kinney, Kyle; Krcmar, Marija; Kotler, Elana; Lafanechere, Melanie; Lee, Clarice; Llerena, Joshua; Markiewicz, Christopher; Matnejl, Priya; Maturana, Alejandro; Mavambu, Aissata; Mayol-Troncoso, Rocío; McDonnell, Amelia; McGowan, Alessia; McLaughlin, Danielle; McIlhenny, Rebecca; McQueen, Brittany; Mebrahtu, Yohannes; Mensi, Martina; Hui, Christy Lai Ming; Suen, Yi Nam; Wong, Stephanie Ming Yin; Morrell, Neal; Omar, Mariam; Partridge, Alice; Phassouliotis, Christina; Pichiecchio, Anna; Politi, Pierluigi; Porter, Christian; Provenzani, Umberto; Prunier, Nicholas; Raj, Jasmine; Ray, Susan; Rayner, Victoria; Reyes, Manuel; Reynolds, Kate; Rush, Sage; Salinas, Cesar; Shetty, Jashmina; Snowball, Callum; Tod, Sophie; Turra-Fariña, Gabriel; Valle, Daniela; Veale, Simone; Whitson, Sarah; Wickham, Alana; Youn, Sarah; Zamorano, Francisco; Zavaglia, Elissa; Zinberg, Jamie; Woods, Scott W; Shenton, Martha E

Systematic review and meta-analysis comparing outcomes of multi-port versus single-incision laparoscopic surgery (SILS) in Hartmann's reversal

系统评价和荟萃分析比较多孔腹腔镜手术与单切口腹腔镜手术(SILS)在Hartmann手术逆转中的疗效

Mostafa, Omar E S; Zaman, Shafquat; Beedham, William; Kakaniaris, Georgios; Husain, Najam; Kumar, Lalit; Akingboye, Akinfemi; Waterland, Peter

The perceived global impact of the COVID-19 pandemic on doctors' medical and surgical training: An international survey

新冠肺炎疫情对医生内外科培训的全球影响认知:一项国际调查

Laloo, Ryan; Santhosh Karri, Rama; Wanigasooriya, Kasun; Beedham, William; Darr, Adnan; Layton, Georgia R; Logan, Peter; Tan, Yanyu; Mittapalli, Devender; Patel, Tapan; Mishra, Vivaswan Dutt; Odeh, Osama Faleh; Prakash, Swathi; Elnoamany, Salma; Peddinti, Sri Ramya; Daketsey, Elorm Adzoa; Gadgil, Shardool; Bouhuwaish, Ahmad; Ozair, Ahmad; Bansal, Sanchit; Elhadi, Muhammed; Godbole, Aditya Amit; Axiaq, Ariana; Rauf, Faateh Ahmad; Ashpak, Ashna

The Effectiveness of a Foundation Year 1 Doctor Preparation Course for Final Year Medical Students

基础年医生预备课程对毕业班医学生的有效性

Beedham, William; Wanigasooriya, Kasun; Layton, Georgia R; Taing Chan, Ley; Darr, Adnan; Mittapalli, Devender

Head injury in the elderly - an overview for the physician

老年人头部损伤——医生概述

Beedham, William; Peck, George; Richardson, Simon E; Tsang, Kevin; Fertleman, Michael; Shipway, David Jh

67 CF patients with a declining FEV(1): At risk for acquisition of Burkholderia cepacia complex infection?

67 名 FEV1 下降的 CF 患者:有感染伯克霍尔德菌属细菌复合群的风险吗?

Elborn, J Stuart; Chernyavskaya, A; Simonova, O; Powell, L; Watkinson, J; Rao, N; Watkinson, J; Powell, L; Rao, N; Dagenais, R; Su, V; Cen, R; McCabe, D; Shayle, A; Lock, K; Carson, J; Alexander, L; Bell, J; Sufian, B; Passamano, J; Sopchak, A; Weaver, L; Reed, M; Chidekel, A; Yuen, N; Guthrie, C; Williams, K; Ruseckaite, R; Herdiman, J; Ahern, S; Belkin, R; Carmona, J; Belkin, B; Dowdall, F; Tansinda, A; Donnelly, M; Chandran, S; Bhatnagar, R; Tecklenborg, S; Segurado, R; Fitzpatrick, P; Bhatnagar, R; Tecklenborg, S; Segurado, R; Fitzpatrick, P; Aldous, G; Pinnock, N; Nazareth, D; Walshaw, M; Nazareth, D; Sumner, C; Walshaw, M; Borawska-Kowalczyk, U; Sujecka, A; Mielus, M; Sands, D; Sanderson-Thomas, A; Pickering, N; Saba, T; Jones, S; Smith, L; Ainsworth, K; Warnock, L; Flight, W; Chapman, K; Gates, A; Keyte, R; Egan, H; Mantzios, M; Schwarz, C; Lackner, M; Eschenhagen, P; Nagl, M; Brennan, A; Pickles, J; Punt, S; Taylor, K; Beynon, J; Mittaine, M; Aversenq, E; Milhorat, P; Lannibois, C; Maumus, P; Arrouy, A; Bruschwein, H; Soper, M; Jennings, D; Somerville, L; List, R; Compton, M; Gettle, L; Murray, R; Starheim, E; Albon, D; Hatziagorou, E; Toulia, I; Kalaitzidou, E; Chrysochoou, E-A; Galogavrou, M; Tsanakas, J; Le, T; Cheng, S; Wallenburg, J; Stephenson, A; Evangelista, B; Murray, R; List, R; Albon, D; Bruschwein, H; Compton, M; Jennings, D; Turner, R; Somerville, L; Clay, M; Cooper, V; Cheng, S; Le, T; Wallenburg, J; Sykes, J; Stephenson, A; Mahan, K; Billings, J; Kiel, S; Dunitz, J; Donovan, J; Cruz, D; Hejenkowska, E; Mu, F; Farinha, C; Swiatecka-Urban, A; Wisniewski, B; Swegheimer, K; Boat, T; Hjelm, M; Terry, M; Keith, J; Oden, A; Birket, S; Huang, Y; Whitsett, J; Naren, A; Gentzsch, M; Hill, D; Maleth, J; Quinney, N; Rouillard, K; Boyles, S; Molnar, L; Duus, E; Maetzel, A; Mandity, I; Pougheon, D; Chansard, A; Fanchini, A; Therouanne, S; Lombrail, P; Russell, E; Dickinson, K; Ruiz, F; Mann, M; Núñez Barrera, I; Sánchez, M; Lezana Fernández, J; Reyes Apodaca, M; 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