학술논문
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'학술논문'
에서 검색결과 756건 | 목록
1~20
Academic Journal
Panadés-de Oliveira, Luísa; Salido Galeote, Marta; Prado Duran, Eva; Vilella, Laura; Celdrán de Castro García, Adriana; Principe, Alessandro; Puiggros Metje, Anna; Cuscó Martí, Ivon; Pérez-Jurado, Luis A.; Zucca, Riccardo; Boronat, Susana; Rocamora, Rodrigo
Seizure: European Journal of Epilepsy. 137:32-39
Academic Journal
David Pesqué; Beatriz Bellosillo; Álvaro March-Rodríguez; Irene Abreu-Rodriguez; Luis A Pérez-Jurado; Ramon M Pujol
Clinical and Experimental Dermatology. 50:2347-2350
Academic Journal
Daniel Greene; Koenraad De Wispelaere; Jon Lees; Marta Codina-Solà; Brynjar O. Jensson; Emma Hales; Andrea Katrinecz; Esther Nieto Molina; Sonia Pascoal; Rolph Pfundt; Rachel Schot; Marta Sevilla Porras; Frank Sleutels; Irene Valenzuela; Robin Wijngaard; Ignacio Arroyo Carrera; Giles Atton; Didac Casas-Alba; Deirdre Donnelly; Anna Duat Rodríguez; Bárbara Fernández Garoz; Nicola Foulds; Deyanira García-Navas Núñez; Elena González Alguacil; Joanna Jarvis; Sarina G. Kant; Irene Madrigal Bajo; Antonio F. Martinez-Monseny; Shane McKee; Nelmar Valentina Ortiz Cabrera; Laia Rodríguez-Revenga Bodi; Andrea Sariego Jamardo; Kari Stefansson; Patrick Sulem; Mohnish Suri; Clara Van Karnebeek; Pradeep Vasudevan; Ana Isabel Vega Pajares; Ángel Carracedo; Marc Engelen; Pablo Lapunzina; Natasha P. Morgan; Beatriz Morte; Patrick Rump; Kathy Stirrups; Eduardo F. Tizzano; Tahsin Stefan Barakat; Michael O’Donoghue; Luis Alberto Pérez-Jurado; Kathleen Freson; Andrew D. Mumford; Ernest Turro
Nat Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373
Academic Journal
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G., 1952; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah, 1973; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
Human Mutation. 43(6):717-733
Academic Journal
Cáceres, Alejandro; Pérez-Jurado, Luis A.; Alegret-García, Albert; Dwaraka, Varun B.; Smith, Ryan; González, Juan R.
Communications Biology. 8(1)
Academic Journal
Alegret-García, Albert; Cáceres, Alejandro; Sevilla-Porras, Marta; Pérez-Jurado, Luís A.; González, Juan R.
Biomedicines. December, 2025, Vol. 13 Issue 12
Academic Journal
Marta Sevilla-Porras; Esther Nieto-Molina; Zahara Medina; Alejandra Damián; Juan R. Tejedor; Carlos Ruiz-Arenas; Mario Cazalla; Rosario Carmona; Jorge Amigo; Ibai Goicoechea; Raúl Tonda; Gemma Bullich; Sergi Beltran; Noemí Toro-Barrios; Virginia Aquino; Emma Soengas-Gonda; Cinta Navarro-Moreno; Marcela Mena; June Corcuera; Verónica Martos-Gago; Míriam Álvarez-Barona; María Barreda-Sánchez; Cristina Silván; Jair Tenorio-Castaño; Carolina Alves; María I. Álvarez-Mora; Laia Rodríguez-Revenga; Irene Madrigal; María J. Ballesta-Martinez; Vanesa López-González; Belén Pérez; Montserrat Morales-Conejo; Irene Valenzuela; Marta Codina-Solà; Marta Alemany-Albert; Virginia Ballesteros-Cogollos; Raquel Rodríguez-López; Berta Almoguera; Isabel Lorda-Sánchez; Irene Lázaro-Rodríguez; Miguel A. Martín; Lidia Fernández-Caballero; Helena Gil-Peña; Noelia García-González; Marta Agúndez-Sarasola; Judith Armstrong; Loreto Martorell; Dídac Casas-Alba; Carmen Fons; Roser Urreizti; Antonio F. Martínez-Monseny; Leticia Pías-Peleteiro; Francisco Palau; Lexuri Gerrikabeitia; Nelmar V. Ortiz-Cabrera; Anna Duat-Rodríguez; Bárbara Fernández-Garoz; Laura López-Marín; Beatriz Bernardino-Cuesta; Elena Anton-Martin; María J. González-Gómez; Elena González-Alguacil; Carmen Gómez Lado; David Dacruz-Álvarez; Beatriz Sobrino; Víctor Martínez-Glez; Anna Ruiz; Carmen Manso-Bazús; Nino Spataro; Neus Baena; Juan Pablo Trujillo-Quintero; Nuria Capdevila; Anna Brunet-Vega; Eugenio Zapata-Aldana; Verónica A. Seidel; Raquel Yahyaoui; Ignacio Blanco; Elisabeth Castellanos; Montse Pauta; María del Mar Rovira; Barbara Masotto; Agustí Rodríguez-Palmero; Aurora Pujol; Agatha Schlüter; María Palomares-Bralo; María Á. Gómez-Cano; María Nieves-Moreno; Emi Rikeros-Orozco; Antonio Poyatos-Andujar; Inmaculada Medina-Martínez; Fernando Santos-Simarro; Damià Heine-Suñer; Susana R. Avella-Klaassen; Ángeles Perez-Granero; María Antonia Grimalt; Ignacio Arroyo-Carrera; Andrea Sariego-Jamardo; Ana I. Vega; José L. Fernández-Luna; Mireia Del Toro; Flora Sánchez-Jiménez; Juan M. Borreguero-León; Andrea Campo-Barasoain; Joaquín Dopazo; Mario F. Fraga; Feliciano Ramos; Jordi Rosell; Enrique Galán-Gomez; Salud Borrego; Luis Castaño; Francisco Barros; José M. Millán; Gemma Aznar-Laín; Encarna Guillén-Navarro; Carmen Ayuso; Ángel Carracedo; Pablo Lapunzina; Beatriz Morte; Luis A. Pérez-Jurado
Academic Journal
Aymeric Masson; Julien Paccaud; Martina Orefice; Estelle Colin; Outi Mäkitie; Valérie Cormier-Daire; Raissa Relator; Sourav Ghosh; Jean-Marc Strub; Christine Schaeffer-Reiss; Carlo Marcelis; David A. Koolen; Rolph Pfundt; Elke de Boer; Lisenka E.L.M. Vissers; Thatjana Gardeitchik; Lonneke A.M. Aarts; Tuula Rinne; Paulien A. Terhal; Nienke E. Verbeek; Linda C. Zuurbier; Astrid S. Plomp; Marja W. Wessels; Stella A. de Man; Arjan Bouman; Lynne M. Bird; Reem Saadeh-Haddad; Maria J. Guillen Sacoto; Richard Person; Catherine Gooch; Anna C.E. Hurst; Michelle L. Thompson; Susan M. Hiatt; Rebecca O. Littlejohn; Elizabeth R. Roeder; Mari Mori; Scott Hickey; Jesse M. Hunter; Kristy Lee; Khaled Osman; Rana Halloun; Ruxandra Bachmann-Gagescu; Anita Rauch; Dagmar Wieczorek; Konrad Platzer; Johannes Luppe; Laurence Duplomb-Jego; Fatima El It; Yannis Duffourd; Frédéric Tran Mau-Them; Celine Huber; Christopher T. Gordon; Fulya Taylan; Riikka E. Mäkitie; Alice Costantini; Helena Valta; Stephen Robertson; Gemma Poke; Michel Francoise; Andrea Ciolfi; Marco Tartaglia; Nina Ekhilevitch; Rinat Zaid; Michael A. Levy; Jennifer Kerkhof; Haley McConkey; Julian Delanne; Martin Chevarin; Valentin Vautrot; Valentin Bourgeois; Sylvie Nguyen; Nathalie Marle; Patrick Callier; Hana Safraou; Angela Morgan; David J. Amor; Michael Hildebrand; David Coman; Marion Aubert Mucca; Julien Thevenon; Fanny Laffargue; Frédéric Bilan; Céline Pebrel-Richard; Grace Yoon; Michelle M. Axford; Luis A. Pérez-Jurado; Marta Sevilla-Porras; Douglas Black; Christophe Philippe; Bekim Sadikovic; Christel Thauvin-Robinet; Laurence Olivier-Faivre; Michela Ori; Quentin Thomas; Antonio Vitobello
Journal of Clinical Investigation.
Academic Journal
Álvaro March‐Rodríguez; Asunción Vicente; Ana García García; Cristian Launes; Helena Escolà; Luis A. Pérez‐Jurado; Luis F. Sánchez; Silvia Planas; Ramon M. Pujol; Eulàlia Baselga
Pediatric Dermatology.
Academic Journal
Nidia Planella‐Fontanillas; Álvaro March‐Rodríguez; Luis Alberto Pérez‐Jurado; Irene Abreu‐Rodríguez; Ramon M. Pujol; Laia Curto‐Barredo
International Journal of Dermatology. 64:1131-1133
Academic Journal
Francisco Javier Cotrina-Vinagre; María Elena Rodríguez-García; Lucía del Pozo-Filíu; Aurelio Hernández-Laín; Ana Arteche-López; Beatriz Morte; Marta Sevilla; Luis Alberto Pérez-Jurado; Pilar Quijada-Fraile; Ana Camacho; Francisco Martínez-Azorín
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Zain Awamleh; Sanaa Choufani; Wendy Wu; Dmitrijs Rots; Alexander J. M. Dingemans; Nael Nadif Kasri; Susana Boronat; Salvador Ibañez-Mico; Laura Cuesta Herraiz; Irene Ferrer; Antonio Martínez Carrascal; Luis A. Pérez-Jurado; Gemma Aznar Lain; Juan Dario Ortigoza-Escobar; Bert B. A. de Vries; David A. Koolen; Rosanna Weksberg
Eur J Hum Genet
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia
Fundación de Investigación del Hospital General de Valencia (FIHGUV)
European Journal of Human Genetics, 32, 3, pp. 324-332
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia
Fundación de Investigación del Hospital General de Valencia (FIHGUV)
European Journal of Human Genetics, 32, 3, pp. 324-332
Academic Journal
Gemma Aznar-Laín; Daniel M. Fernández-Mayoralas; Anne G. Caicoya; Rodrigo Rocamora; Luis A. Pérez-Jurado
Pediatric Neurology. 144:84-89
Academic Journal
Pérez-Jurado, Luis A.; Cáceres, Alejandro; Balagué-Dobón, Laura; Esko, Tonu; López de Heredia, Miguel; Quintela, Inés; Cruz, Raquel; Lapunzina, Pablo; Carracedo, Ángel; González, Juan R.
Communications Biology. 7(1)
Academic Journal
Cristina Lucia-Campos; Ilaria Parenti; Ana Latorre-Pellicer; Marta Gil-Salvador; Ilaria Bestetti; Palma Finelli; Lidia Larizza; María Arnedo; Ariadna Ayerza-Casas; Julia Del Rincón; Laura Trujillano; Beatriz Morte; Luis A. Pérez-Jurado; Pablo Lapunzina; Elsa Leitão; Jasmin Beygo; Christina Lich; Fabian Kilpert; Sabine Kaya; Christel Depienne; Frank J. Kaiser; Feliciano J. Ramos; Beatriz Puisac; Juan Pié
Front Genet
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Genetics, Vol 15 (2024)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan ; Gener, Blanca ; Bailleul-Forestier, Isabelle ; Meyts, Isabelle ; Jouret, Guillaume ; Isidor, Bertrand ; Brewer, Carole ; Wuyts, Wim ; Moens, Leen ; Delafontaine, Selket ; Keung Lam, Wayne Wing ; Van Den Bogaert, Kris ; Boogaerts, Anneleen ; Scalais, Emmanuel ; Besnard, Thomas ; Cogne, Benjamin ; Guissard, Christophe ; Rollier, Paul ; Carre, Wilfrid ; Bouvet, Regis ; Tarte, Karin ; Gómez-Carmona, Ricardo ; Lapunzina, Pablo ; Odent, Sylvie ; Faoucher, Marie ; Dubourg, Christele ; Ruiz-Pérez, Víctor L. ; Devriendt, Koen ; Pasquier, Laurent ; Pérez-Jurado, Luis A.
In Genetics in Medicine December 2022 24(12):2475-2486
Academic Journal
Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah ; Evans, Carey-Anne ; O’Heir, Emily ; Zhu, Ying ; Zhang, Futao ; Standen, Krystle ; Weisburd, Ben ; Stenton, Sarah L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Talkowski, Michael E. ; Ma, Alan ; Ghedia, Sondy ; Wilson, Meredith ; Sandaradura, Sarah A. ; Smith, Janine ; Kamien, Benjamin ; Turner, Anne ; Bakshi, Madhura ; Adès, Lesley C. ; Mowat, David ; Regan, Matthew ; McGillivray, George ; Savarirayan, Ravi ; White, Susan M. ; Tan, Tiong Yang ; Stark, Zornitza ; Brown, Natasha J. ; Pérez-Jurado, Luis A. ; Krzesinski, Emma ; Hunter, Matthew F. ; Akesson, Lauren ; Fennell, Andrew Paul ; Yeung, Alison ; Boughtwood, Tiffany ; Ewans, Lisa J. ; Kerkhof, Jennifer ; Lucas, Christopher ; Carey, Louise ; French, Hugh ; Rapadas, Melissa ; Stevanovski, Igor ; Deveson, Ira W. ; Cliffe, Corrina ; Elakis, George ; Kirk, Edwin P. ; Dudding-Byth, Tracy ; Fletcher, Janice ; Walsh, Rebecca ; Corbett, Mark A. ; Kroes, Thessa ; Gecz, Jozef ; Meldrum, Cliff ; Cliffe, Simon ; Wall, Meg ; Lunke, Sebastian ; North, Kathryn ; Amor, David J. ; Field, Michael ; Sadikovic, Bekim ; Buckley, Michael F. ; O’Donnell-Luria, Anne ; Roscioli, Tony
In Genetics in Medicine May 2024 26(5)
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
J Clin Invest
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K,Pérez -Jurado , L A, Aznar-Laín, G, Aneja, A, Hancarova, M, Bendova, S, Schwarz, M, Pourova, R K, Sedlacek, Z, Keena, B A, March, M E, Hou, C, O’Connor, N, Bhoj, E J, Harr, M H, Lemire, G, Boycott, K M, Towne, M, Li, M, Tarnopolsky, M, Brady, L, Parker, M J, Faghfoury, H, Parsley, L K, Agolini, E, Dentici, M L, Novelli, A, Wright, M, Palmquist, R, Lai, K, Scala, M, Striano, P, Iacomino, M, Zara, F, Cooper, A, Maarup, T J, Byler, M, Lebel, R R, Balci, T B, Louie, R, Lyons, M, Douglas, J, Nowak, C, Afenjar, A, Hoyer, J, Keren, B, Maas, S M, Motazacker, M M, Martinez-Agosto, J A, Rabani, A M, McCormick, E M, Falk, M J, Ruggiero, S M, Helbig, I, Møller, R S, Tessarollo, L, Ardori, F T, Palko, M E, Hsieh, T C, Krawitz, P M, Ganapathi, M, Gelb, B D, Jobanputra, V, Wilson, A, Greally, J, Jacquemont, S, Jizi, K, Bruel, A L, Quelin, C, Misra, V K, Chick, E, Romano, C, Greco, D, Arena, A, Morleo, M, Nigro, V, Seyama, R, Uchiyama, Y, Matsumoto, N, Taira, R, Tashiro, K, Sakai, Y, Yigit, G, Wollnik, B, Wagner, M, Kutsche, B, Hurst, A C E, Thompson, M L, Schmidt, R, Randolph, L, Spillmann, R C, Shashi, V, Higginbotham, E J, Cordeiro, D, Carnevale, A, Costain, G, Khan, T, Funalot, B, Mau-Them, F T, Garcia Moya, L F, García-Miñaúr, S, Osmond, M, Chad, L, Quercia, N, Carrasco, D, Li, C, Sanchez-Valle, A, Kelley, M, Nizon, M, Jensson, B O, Sulem, P, Stefansson, K, Gorokhova, S, Busa, T, Rio, M, Habdallah, H H, Lesieur-Sebellin, M, Amiel, J, Pingault, V, Mercier, S, Vincent, M, Philippe, C, Fatus-Fauconnier, C, Friend, K, Halligan, R K, Biswas, S, Rosser, J, Shoubridge, C, Corbett, M, Barnett, C, Gecz, J, Leppig, K, Slavotinek, A, Marcelis, C, Pfundt, R, de Vries, B B A, van Slegtenhorst, M A, Brooks, A S, Cogne, B, Rambaud, T, Tümer, Z, Zackai, E H, Akizu, N, Song, Y & Hakonarson, H 2024, ' Spliceosome malfunction causes neurodevelopmental disorders with overlapping features ', Journal of Clinical Investigation, vol. 134, no. 1, e171235 . https://doi.org/10.1172/JCI171235
Population and Environment, 134, 1
Li, D, Wang, Q, Bayat, A, Battig, M R, Zhou, Y, Bosch, D G M, van Haaften, G, Granger, L, Petersen, A K,
Academic Journal
Clinical and Experimental Dermatology. 48:729-732
Academic Journal
Alejandro Cáceres; Luis A. Pérez-Jurado; Albert Alegret-García; Varun B. Dwaraka; Ryan Smith; Juan R. González
Commun Biol
Communications Biology, Vol 8, Iss 1, Pp 1-13 (2025)
Communications Biology, Vol 8, Iss 1, Pp 1-13 (2025)
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[검색어] Luis A. Perez-Jurado
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