학술논문
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'학술논문'
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1~20
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Yong G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yazhou W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yuran D; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Kai Z; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Han Y; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Zipeng L; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Jianmin C; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Feng G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Chunhua X; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Wentao G; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Junli W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Kuirong J; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.; Yi M; Pancreas Center, The Affiliated BenQ Hospital of Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China. miaoyi@njmu.edu.cn.; Jishu W; Pancreas Center, The First Affiliated Hospital with Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China. weijishu@njmu.edu.cn.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9808285 Publication Model: Electronic Cited Medium: Internet ISSN: 1435-2451 (Electronic) Linking ISSN: 14352443 NLM ISO Abbreviation: Langenbecks Arch Surg Subsets: MEDLINE
Academic Journal
Johansson Lennart; Laurie Steve; Spalding Dylan; Gibson Spencer; Ruvolo David; Thomas Coline; Piscia Davide; de Andrade Fernanda; Been Gerieke; Bijlsma Marieke; Brunner Han; Cimerman Sandi; Dizjikan Farid Yavari; Ellwanger Kornelia; Fernandez Marcos; Freeberg Mallory; van de Geijn Gert-Jan; Kanninga Roan; Maddi Vatsalya; Mehtarizadeh Mehdi; Neerincx Pieter; Ossowski Stephan; Rath Ana; Roelofs-Prins Dieuwke; Stok-Benjamins Marloes; van der Velde K Joeri; Veal Colin; van der Vries Gerben; Wadsley Marc; Warren Gregory; Zurek Birte; Keane Thomas; Graessner Holm; Beltran Serg; Swertz Morris A; Brookes Anthony; Riess Olaf; Haack Tobias; Demidov German; Sturm Marc; Schulze-Hentrich Julia M; Schüle Rebecca; Xu Jishu; Kessler Christoph; Kellner Melanie; Synofzik Matthis; Wilke Carlo; Traschütz Andreas; Schöls Ludger; Hengel Holger; Lerche Holger; Kegele Josua; Heutink Peter; Scheffer Hans; Hoogerbrugge Nicoline; Hoischen Alexander; 't Hoen Peter; Vissers Lisenka ELM; Gilissen Christian; Steyaert Wouter; Sablauskas Karolis; de Voer Richarda M; Kamsteeg Erik-Jan; van de Warrenburg Bart; van Os Nienke; te Paske Iris; Janssen Erik; de Boer Elke; Steehouwer Marloes; Yaldiz Burcu; Kleefstra Tjitske; Brookes Anthony J; Riaz Umar; Warren Greg; Shorter Thomas; Töpf Ana; Straub Volker; Bettolo Chiara Marini; Manera Jordi Diaz; Hambleton Sophie; Engelhardt Karin; Clayton-Smith Jill; Banka Siddharth; Alexander Elizabeth; Jackson Adam; Faivre Laurence; Thauvin Christel; Vitobello Antonio; Denommé-Pichon Anne-Sophie; Duffourd Yannis; Bruel Ange-Line; Peyron Christine; Pélissier Aurore; Beltran Sergi; Gut Ivo Glynne; Laurie Steven; Matalonga Leslie; Papakonstantinou Anastasios; Bullich Gemma; Corvo Alberto; Fernandez-Callejo Marcos; Hernández Carles; Picó Daniel; Paramonov Ida; Lochmüller Hanns; Gumus Gulcin; Bros-Facer Virginie; Hanauer Marc; Lagorce David; Hongnat Oscar; Chahdil Maroua; Lebreton Emeline; Stevanin Giovanni; Durr Alexandra; Davoine Claire-Sophie; Guillot-Noel Léna; Heinzmann Anna; Coarelli Giulia; Bonne Gisèle; Evangelista Teresinha; Allamand Valérie; Nelson Isabelle; Yaou Rabah Ben; Metay Corinne; Eymard Bruno; Cohen Enzo; Atalaia Antonio; Stojkovic Tanya; Macek Milan; Turnovec Marek; Thomasová Dana; Kremliková Radka Pourová; Franková Vera; Havlovicová Markéta; Lišková Petra; Doležalová Pavla; Parkinson Helen; Robinson Peter; Danis Daniel; Robert Glenn; Costa Alessia; Patch Christine; Hanna Mike; Houlden Henry; Reilly Mary; Vandrovcova Jana; Efthymiou Stephanie; Morsy Heba; Cali Elisa; Magrinelli Francesca; Sisodiya Sanjay M; Rohrer Jonathan; Muntoni Francesco; Zaharieva Irina; Sarkozy Anna; Timmerman Vincent; Baets Jonathan; de Vries Geert; De Winter Jonathan; Beijer Danique; de Jonghe Peter; Van de Vondel Liedewei; De Ridder Willem; Weckhuysen Sarah; Nigro Vincenzo; Mutarelli Margherita; Morleo Manuela; Pinelli Michele; Varavallo Alessandra; Banfi Sandro; Torella Annalaura; Musacchia Francesco; Piluso Giulio; Ferlini Alessandra; Selvatici Rita; Gualandi Francesca; Bigoni Stefania; Rossi Rachele; Neri Marcella; Aretz Stefan; Spier Isabel; Sommer Anna Katharina; Peters Sophia; Oliveira Carla; Garcia-Pelaez Jose; Barbosa-Matos Rita; José Celina São; Ferreira Marta; Gullo Irene; Fernandes Susana; Garrido Luzia; Ferreira Pedro; Carneiro Fátima; van der Velde Joeri K; Neerincx Pieter B; Abbott Kristin M; Frederikse Wilhemina S Kerstjens; Zonneveld-Huijssoon Eveline; van Gijn Marielle; Köhler Sebastian; Metcalfe Alison; Verloes Alain; Drunat Séverine; Heron Delphine; Mignot Cyril; Keren Boris; de Sainte Agathe Jean-Madeleine; Rooryck Caroline; Lacombe Didier; Trimouille Aurelien; De la Paz Manuel Posada; Sánchez Eva Bermejo; Martín Estrella López; Delgado Beatriz Martínez; de la Rosa F Javier Alonso García; Ciolfi Andrea; Dallapiccola Bruno; Pizzi Simone; Radio Francesca Clementina; Tartaglia Marco; Renieri Alessandra; Furini Simone; Fallerini Chiara; Benetti Elisa; Balicza Peter; Molnar Maria Judit; Maver Ales; Peterlin Borut; Münchau Alexander; Lohmann Katja; Herzog Rebecca; Pauly Martje; Macaya Alfons; Cazurro-Gutiérrez Ana; Pérez-Dueñas Belén; Munell Francina; Jarava Clara Franco; Masó Laura Batlle; Marcé-Grau Anna; Colobran Roger; Osorio Andrés Nascimento; de Benito Daniel Natera; Thompson Rachel; Polavarapu Kiran; Grimbacher Bodo; Beeson David; Cossins Judith; Hackman Peter; Johari Mridul; Savarese Marco; Udd Bjarne; Horvath Rita; Chinnery Patrick F; Ratnaike Thiloka; Gao Fei; Schon Katherine; Capella Gabriel; Valle Laura; Holinski-Feder Elke; Laner Andreas; Steinke-Lange Verena; Schröck Evelin; Rump Andreas; Başak Ayşe Nazlı; Hemelsoet Dimitri; Dermaut Bart; Schuermans Nika; Poppe Bruce; Verdin Hannah; Mei Davide; Vetro Annalisa; Balestrini Simona; Guerrini Renzo; Claeys Kristl; Santen; Gijs W E; Bijlsma; Emilia K; Hoffer; Mariette J V; Ruivenkamp; Claudia A L; Boztug Kaan; Haimel Matthias; Maystadt Isabelle; Cordts Isabell; Deschauer Marcus; Zaganas Ioannis; Kokosali Evgenia; Lambros Mathioudakis; Evangeliou Athanasios; Spilioti Martha; Kapaki Elisabeth; Bourbouli Mara; Striano Pasquale; Zara Federico; Riva Antonella; Iacomino Michele; Uva Paolo; Scala Marcello; Scudieri Paolo; Cilio Maria-Roberta; Carpancea Evelina; Depondt Chantal; Lederer Damien; Sznajer Yves; Duerinckx Sarah; Mary Sandrine; Depienne Christel; Roos Andreas; May Patrick
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Academic Journal
Fenmo yejin jishu , Vol 43, Iss 5, Pp 559-567 (2025)
Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Fenmo yejin jishu , Vol 43, Iss 3, Pp 317-324 (2025)
Academic Journal
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoen, Peter A. C. ’t; Vissers, Lisenka E. L. M.; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak, Ayşe Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. 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Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert,W , Sablauskas, K, de Voer, R M, Kamsteeg, E J, van de Warrenburg, B, van Os, N, te Paske, I, Janssen, E, Clayton-Smith, J, Banka, S, Jackson, A & et al. 2023, 'Twist exome capture allows for lower average sequence coverage in clinical exome sequencing', Human Genomics, vol. 17, no. 1, 39. https://doi.org/10.1186/s40246-023-00485-5
HUMAN GENOMICS
Human Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J, Rinne, T, Yntema, H G, Hoischen, A, Nelen, M, Gilissen, C, Solve-RD consortium, Riess, O, Haack, T B, Graessner, H, Zurek, B, Ellwanger, K, Ossowski, S, Demidov, G, Sturm, M, Schulze-Hentrich, J M, Schüle, R, Xu, J, Kessler, C, Wayand, M, Synofzik, M, Wilke, C, Traschütz, A, Schöls, L, Hengel, H, Lerche, H, Kegele, J, Heutink, P, Brunner, H, Scheffer, H, Hoogerbrugge, N, Hoischen, A, Hoen, P A C, Vissers, L E L M, Gilissen, C, Steyaert,
HUMAN GENOMICS
Human Genomics
Academic Journal
Baobao Cai; Zipeng Lu; John P. Neoptolemos; Markus K. Diener; Mingna Li; Lingdi Yin; Yong Gao; Jishu Wei; Jianmin Chen; Feng Guo; Min Tu; Chunhua Xi; Junli Wu; Wentao Gao; Cuncai Dai; Kuirong Jiang; Markus W. Büchler; Yi Miao
Langenbeck's Archives of Surgery. 406:691-701
Academic Journal
Journal of Electronic Materials. :1-9
Academic Journal
Fenmo yejin jishu , Vol 42, Iss 6, Pp 600-608, 651 (2024)
Academic Journal
van Bodegraven, E.A.; Lof, S.; Jones, L.; Aussilhou, B.; Yong, G.; Jishu, W.; Klotz, R.; Rocha-Castellanos, D.M.; Matsumato, I.; de Ponthaud, C.; Tanaka, K.; Biesel, E.; Kauffmann, E.; Dumitrascu, T.; Nagakawa, Y.; Martí-Cruchaga, P.; Roeyen, G.; Zerbi, A.; Goetz, M.; de Meijer, V.; Pessaux, P.; Ignatavicius, P.; Demir, I.; Giuffrida, M.; Tingstedt, B.; Marino, M.V.; Mastoridis, S.; Brunner, M.; Mora-Oliver, I.; Bortolato, C.; Gulla, A.; Apers, T.; Hermand, H.; Mitsuka, Y.; Popescu, I.; Boggi, U.; Wittel, U.; Hirano, S.; Gaujoux, S.; Kamei, K.; Fernández-Del Castillo, C.; Hackert, T.; Kuirong, J.; Yi, M.; Sauvanet, A.
HPB. 25:S246-S247
Academic Journal
Fenmo yejin jishu , Vol 42, Iss 3, Pp 283-289 (2024)
Academic Journal
Fenmo yejin jishu , Vol 43, Iss 6, Pp 776-783 (2025)
Academic Journal
Dianzi Jishu Yingyong, Vol 50, Iss 2, Pp 83-87 (2024)
Academic Journal
Yuanzineng kexue jishu , Vol 57, Iss 7, Pp 1385-1396 (2023)
Academic Journal
van Bodegraven EA; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Lof S; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Jones L; Department of General Surgery, Istituto Ospedaliero Fondazione Poliambulanza, Brescia, Italy.; Aussilhou B; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Yong G; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Jishu W; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Klotz R; Department of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Rocha-Castellanos DM; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Matsumato I; Department of Surgery, Kindai University Faculty of Medicine, Osaka-sayama, Japan.; de Ponthaud C; Department of Digestive, Hepato-biliary-pancreatic and Liver Transplantation, Pitie-Salpetriere Hospital, AP-HP, Sorbonne University, Paris, France.; Tanaka K; Department of Gastroenterological Surgery II, Hokkaido University Faculty of Medicine, Hokkaido, Japan.; Biesel E; Medical Center-University of Freiburg, Department of General and Visceral Surgery, Freiburg, Germany.; Kauffmann E; Division of General and Transplant Surgery, Department of Surgery, University of Pisa, Pisa.; Dumitrascu T; Center of General Surgery and Liver Transplant, Department of Surgery, Fundeni Clinical Institute, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Nagakawa Y; Department of Gastrointestinal and Pediatric Surgery Tokyo Medical University, Tokyo, Japan.; Martí-Cruchaga P; Department of Surgery, Clínica Universitaria de Navarra, Pamplona, Navarra, Spain.; Roeyen G; Department of HPB, Endocrine and Transplantation Surgery, Antwerp University Hospital, Belgium.; Zerbi A; Pancreatic Surgery Unit, Humanitas Clinical and Research Center-IRCCS, Department of Surgery, Rozzano, Milan, Italy.; Goetz M; Department of General, Visceral and Thoracic Surgery, University Medical Center, Hamburg, Germany.; de Meijer VE; Department of Surgery, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands.; Pessaux P; Department of Visceral and Digestive surgery, Nouvel Hopital Civil, University Hospital, Strasbourg Institut Hospitalo-Universitaire de Strasbourg, Strasbourg, France.; Ignatavicius P; Department of Surgery, Lithuanian University of Health Sciences, Vilnius, Lithuania.; Demir IE; Technical University of Munich, Department of Surgery, Germany.; Giuffrida M; Parma University Hospital-General Surgery Unit, Department of Surgery, Parma, Italy.; Tingstedt B; Department of Surgery, University Hospital of Skane Lund, Lund, Sweden.; Marino MV; Department of Emergency and General Surgery, P. Giaccone, Hospital, University of Palermo, Italy.; Mastoridis S; Department of Hepatobiliary and Pancreatic Surgery, Oxford University Hospitals NHS, Oxford, United Kingdom.; Brunner M; Department of General and Visceral Surgery, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Germany.; Mora-Oliver I; Biochemical Research Institute, Department of Surgery, INCLICA, Hospital Clinico Universitario Valencia, Spain.; Bortolato C; Department of Surgery, Ospedale dell'Angelo, Venice, Italy.; Gulla A; Institute of Clinical Medicine, Vilnius University Faculty of Medicine, Department of Surgery, Vilnius, Lithuania.; Apers T; Department of General and Hepatopancreatobiliary Surgery and Liver Transplantation, Ghent University Hospital, Ghent, Belgium.; Hermand H; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Mitsuka Y; Department of Gastrointestinal and Pediatric Surgery Tokyo Medical University, Tokyo, Japan.; Popescu I; Center of General Surgery and Liver Transplant, Department of Surgery, Fundeni Clinical Institute, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Boggi U; Division of General and Transplant Surgery, Department of Surgery, University of Pisa, Pisa.; Wittel U; Medical Center-University of Freiburg, Department of General and Visceral Surgery, Freiburg, Germany.; Hirano S; Department of Gastroenterological Surgery II, Hokkaido University Faculty of Medicine, Hokkaido, Japan.; Gaujoux S; Department of Digestive, Hepato-biliary-pancreatic and Liver Transplantation, Pitie-Salpetriere Hospital, AP-HP, Sorbonne University, Paris, France.; Kamei K; Department of Surgery, Kindai University Faculty of Medicine, Osaka-sayama, Japan.; Fernández-Del Castillo C; Department of Surgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Hackert T; Department of General, Visceral and Transplantation Surgery, Heidelberg University Hospital, Heidelberg, Germany.; Department of General, Visceral and Thoracic Surgery, University Hospital Hamburg-Eppendorf, Germany.; Kuirong J; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Yi M; The Pancreas Center of Nanjing Medical University, Department of Surgery, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.; Sauvanet A; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.; Besselink M; Amsterdam UMC, location University of Amsterdam, Department of Surgery, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Department of Surgery, The Netherlands.; Abu Hilal M; Department of General Surgery, Istituto Ospedaliero Fondazione Poliambulanza, Brescia, Italy.; Dokmak S; Department of HPB surgery and liver transplantation, Hospital of Beaujon, Clichy, France.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0372354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1140 (Electronic) Linking ISSN: 00034932 NLM ISO Abbreviation: Ann Surg Subsets: MEDLINE
Academic Journal
Duan W; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Zhang H; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Xie B; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Wang B; Crop Research Institute, Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Zhang L; Scientific Observation and Experimental Station of Tuber and Root Crops in Huang-Huai-Hai Region, Ministry of Agriculture and Rural Affairs, Jinan, Shandong, China.; Shandong Academy of Agricultural Sciences, Jinan, Shandong, China.; College of Life Sciences, Shandong Normal University, Jinan, Shandong, China.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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[검색어] Jishu, W.
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