학술논문
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'학술논문'
에서 검색결과 1,101건 | 목록
1~20
Academic Journal
Erfanian Omidvar, Maryam; Murrell, Jill R; Prentice, Anna J; Helbig, Ingo; Lerche, Holger; May, Patrick; null, null; Chen, Siwei; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Andrade, Danielle M; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Buono, Russell J; Busch, Robyn M; Canafoglia, Laura; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chou, I-Jun; Chung, Seo-Kyung; Cole, Andrew J; Cossette, Patrick; Cotsapas, Chris; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J; Doccini, Viola; Ellis, Colin; Epstein, Leon; Evans, Meghan; Faucon, Annika; Ferguson, Lisa; Ferraro, Thomas N; Feucht, Martha; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A; Freri, Elena; Gagliardi, Monica; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Guerrini, Renzo; Haas, Kevin; Heinzen, Erin L; Heyne, Henrike; Hoeper, Olivia; Inuzuka, Luciana Midori; Jehi, Lara; Kälviäinen, Reetta; Kariuki, Symon M; Khoury, Jean; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Kurlemann, Gerhard; Labate, Angelo; Lacey, Austin; Lawthom, Charlotte; Leech, Stephanie L; Lemke, Johannes R; Lesca, Gaetan; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Licchetta, Laura; Lowenstein, Daniel H; Madia, Francesca; Magri, Stefania; McGraw, Christopher M; Mei, Davide; Millichap, John J; Minardi, Raffaella; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Nasreddine, Wassim; Neubauer, Bernd A; Newton, Charles R J C; O'Brien, Terence J; Özkara, Çiğdem; Papacostas, Savvas S; Parrini, Elena; Pendziwiat, Manuela; Pickrell, William O; Pinto, Dalila; Poduri, Annapurna; Ragona, Francesca; Rees, Mark I; Rheims, Sylvain; Riva, Antonella; Rojas, Enrique; Sammarra, Ilaria; Schankin, Christoph J; Scheffer, Ingrid E; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R; Sisodiya, Sanjay M; Sparks, Kathryn R; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Tanteles, George A; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Utkus, Algirdas; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Wagner, Ryan G; Weber, Yvonne G; Weckhuysen, Sarah; Wiebe, Samuel; Wolking, Stefan; von Wrede, Randi; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F
Brain.
Academic Journal
Giacomo Pietro Vigezzi; Elena Maggioni; Laura Clavario; Lorenzo Clerico Mosina; Eleonora Raso; Corina Marjin; Andrea Parrini; Matteo Carbone; Simone Fugazza; Alberto Marchisio; Manuela Martella; Giansanto Mosconi; Giuseppina Lo Moro; Fabrizio Bert; Corrado De Vito; Roberta Siliquini; Anna Odone
Expert Review of Vaccines, Vol 24, Iss 1, Pp 668-702 (2025)
Academic Journal
Balestrini, Simona; Galli, Ilaria; Ricci, Maria Luisa; Parrini, Elena; Mei, Davide; Mastrangelo, Mario; Pisani, Francesco; Filippi, Corinna; Giordano, Lucio; Cesaroni, Elisabetta; Marini, Carla; Cerulli Irelli, Emanuele; di Bonaventura, Carlo; Rubino, Marica; Coppola, Antonietta; Proietti, Jacopo; Barco, Tommaso Lo; Darra, Francesca; Licchetta, Laura; Bisulli, Francesca; Perulli, Marco; Battaglia, Domenica; De Dominicis, Angela; Trivisano, Marina; Specchio, Nicola; Solazzi, Roberta; Caputo, Davide; Canafoglia, Laura; Guerrini, Renzo; LICE Collaborative Group: Carmen Barba; Emanuele Bartolini; Pia Bernardo; Maria Paola Canevini; Gaetano Cantalupo; Susanna Casellato; Mara Cavallin; Ilaria Contaldo; Alessandro Ferretti; Maria Luigia Gambardella; Tiziana Granata; Giuliana Lentini; Anna Luchetti; Federico Melani; Pasquale Parisi; Simona Pellacani; Laura Pietrangelo; Tiziana Pisano; Ilaria Onida; Emilia Ricci; Aglaia Vignoli
Epilepsia.
Academic Journal
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. T.; Lubbers, Laura; Lowther, Chelsea; Lowenstein, Daniel H.; Lo, Warren; Linnankivi, Tarja; Lin, Kuang-Lin; Lin, Chih-Hsiang; Licchetta, Laura; Liao, Calwing; Li, Gloria Hoi-Yee; Lewis-Smith, David; Lewin, Naomi; Leu, Costin; Lesca, Gaetan; Lerche, Holger; Lemke, Johannes R.; Lehesjoki, Anna-Elina; Leech, Stephanie L.; Lawthom, Charlotte; Lauxmann, Stephan; Laššuthová, Petra; Lal, Dennis; Lacey, Austin; Labate, Angelo; Vega-Talbott, Maite La; Kwan, Patrick; Kuzniecky, Ruben I.; Kurlemann, Gerhard; Kunz, Wolfram S.; Krey, Ilona; Krestel, Heinz; Krenn, Martin; Krause, Roland; Kousiappa, Ioanna; Koupparis, Andreas; Korinthenberg, Rudolf; Korczyn, Amos D.; Kok, Fernando; Knake, Susanne; Kluger, Gerhard; Klein, Karl Martin; King, Chontelle; Khoury, Jean; Khoueiry-Zgheib, Nathalie; Kesim, Yeşim; Kegele, Josua; Kariuki, Symon M.; Kara, Bulent; Kanaan, Moien; Kälviäinen, Reetta; Johnstone, Mandy; Johnson, Michael R.; Jehi, Lara; Ishii, Atsushi; Inuzuka, Luciana Midori; Inoue, Yushi; Iacomino, Michele; Hung, Po-Chen; Hucks, Donald; Howrigan, Daniel P.; Hoeper, Olivia; Ho, Chen-Jui; Hirsch, Edouard; Hirose, Shinichi; Heyne, Henrike; Hengsbach, Christian; Helbig, Ingo; Heinzen, Erin L.; Hegde, Manu; Häusler, Martin; Haryanyan, Garen; Hakonarson, Hakon; Haas, Kevin; Gupta, Namrata; Gundogdu-Eken, Aslı; Guerrini, Renzo; Greenberg, David A.; Grant, Riley; Granata, Tiziana; Goldstein, David B.; Goldman, Alica; Goldberg, Ethan; Glauser, Tracy A.; Gili, Tommaso; Giangregorio, Tania; Gauthier, Laura; Gambardella, Antonio; Gagliardi, Monica; Gabriel, Stacey; Fu, Jack M.; Freri, Elena; French, Jacqueline A.; Franceschetti, Silvana; Fortunato, Francesco; Fonferko-Shadrach, Beata; Fitzgerald, Mark; Fields, Madeline C.; Feucht, Martha; Ferri, Lorenzo; Silva, Izabela Ferreira Da; Ferraro, Thomas N.; Ferguson, Lisa; Feng, Yen-Chen Anne; Faucon, Annika; Evans, Meghan; Epstein, Leon; Ellis, Colin A.; El-Naggar, Hany; Doherty, Colin P.; Doccini, Viola; Dlugos, Dennis J.; Dickerson, Faith; Vito, Lidia Di; Devinsky, Orrin; Derambure, Philippe; Depondt, Chantal; Dennig, Dieter; Delanty, Norman; Jonghe, Peter De; Davis, Lea K.; Daly, Mark J.; Cusick, Caroline; Cotsapas, Chris; Cossette, Patrick; Cosico, Mahgenn; Cole, Andrew J.; Clark, Peggy O.; Ciullo, Valentina; Churchhouse, Claire; Chung, Seo-Kyung; Chou, I-Jun; Cheung, Ching-Lung; Cherny, Stacey S.; Cherian, Christina; Chassoux, Francine; Cerrato, Felecia; Cavalleri, Gianpiero L.; Castellotti, Barbara; Canavati, Christina; Canafoglia, Laura; Caglayan, S. Hande; Busch, Robyn M.; Buono, Russell J.; Brockmann, Knut; Brand, Harrison; Braatz, Vera; Bosselmann, Christian; Borggräfe, Ingo; Blatt, Ilan; Blackwood, Douglas; Bisulli, Francesca; Bianchini, Claudia; Beydoun, Ahmad; Bennett, Caitlin A.; Becker, Felicitas; Bebek, Nerses; Baykan, Betül; Baumgartner, Tobias H.; Baum, Larry W.; Bass, Nick; Bartolomei, Fabrice; Barboza, Karen; Barba, Carmen; Banks, Eric; Balestrini, Simona; Balagura, Ganna; Baker, Mark D.; Bahlo, Melanie; Auce, Pauls; Arslan, Mutluay; Annesi, Grazia; Andrade, Danielle M.; Anderson, Joe; Anderson, Alison; Amadori, Elisabetta; Ali, Quratulain Zulfiqar; Afawi, Zaid; Abou-Khalil, Bassel W.; Chen, Siwei
Nature Neuroscience. 27(10):1864-1879
Academic Journal
Amadori, Elisabetta; Andrade, Danielle M.; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Berkovic, Samuel F.; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Busch, Robyn M.; Canafoglia, Laura; Castellotti, Barbara; Chou, I-Jun; Chung, Seo-Kyung; Cotsapas, Chris; Devinsky, Orrin; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; Ellis, Colin A.; El-Naggar, Hany; Evans, Meghan; Ferraro, Thomas N.; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Goldman, Alica; Granata, Tiziana; Gupta, Namrata; Haas, Kevin; Hirose, Shinichi; Hoeper, Olivia; Hung, Po-Chen; Johnson, Michael R.; Khoueiry-Zgheib, Nathalie; Khoury, Jean; Klein, Karl Martin; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Kunz, Wolfram S.; Kuzniecky, Ruben I.; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Lauxmann, Stephan; Lawthom, Charlotte; Lerche, Holger; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lowenstein, Daniel H.; Lui, Colin H.T.; Madia, Francesca; Magri, Stefania; Maillard, Louis; Manna, Lorella; Marques, Paula; Mayer, Thomas; McGraw, Christopher M.; Meador, Kimford J.; Mei, Davide; Minardi, Raffaella; Mostacci, Barbara; Muccioli, Lorenzo; Müller-Schlüter, Karen; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd A.; Papacostas, Savvas S.; Parrini, Elena; Pendziwiat, Manuela; Petrovski, Slavé; Pickrell, William O.; Powell, Robert H.W.; Ragona, Francesca; Rees, Mark I.; Rheims, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Sammarra, Ilaria; Scala, Marcello; Scheffer, Ingrid E.; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R.; Sisodiya, Sanjay M.; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Taneja, Randip S.; Tanteles, George A.; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolking, Stefan; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zizovic, Milena; Zsurka, Gábor; Ali, Quratulain Zulfiqar; Auce, Pauls; Avbersek, Andreja; Balling, Rudi; Berghuis, Bianca; Borghei, Mojgansadat; Brodie, Martin J.; Campbell, Ellen; Cavalleri, Gianpiero L.; Chinthapalli, Krishna; Coppola, Antonietta; Craig, John; Delanty, Norman; Demurtas, Rita; Depondt, Chantal; Francis, Ben; Gudmundsson, Lárus J.; Heggeli, Kristin; Hengsbach, Christian; Hutton, Jane L.; Ingason, Andrés; Jorgensen, Andrea; Klein, Karl M.; Koeleman, Bobby P.C.; Krenn, Martin; Langley, Sarah R.; Marson, Anthony G.; McCormack, Mark; Møller, Rikke S.; Morris, Andrew; Muhle, Hiltrud; Nikanorova, Marina; O'Brien, Terence J.; Petrovski, Slave; Rau, Sarah; Rener-Primec, Zvonka; Sander, Josemir W.; Sargsyan, Narek; Schneider, Reinhard; Sills, Graeme J.; Speed, Doug; Srivastava, Prashant K.; Stefansson, Hreinn; Stefánsson, Kári; Todaro, Marian; Willis, Joseph; Zimprich, Fritz; Stevelink, Remi ; Custodio, Helena Martins ; Chen, Siwei ; Jonsson, Lina ; Unnsteinsdóttir, Unnur ; Jorgensen, Andrea L. ; Craig, John J. ; Hassanin, Emadeldin ; Omidvar, Maryam Erfanian ; Stefansson, Kari ; May, Patrick
In eBioMedicine May 2025 115
Academic Journal
Cetica, Valentina; Pisano, Tiziana; Lesca, Gaetan; Marafi, Dana; Licchetta, Laura; Riccardi, F; Mei, Davide; Chung, Hon‐yin; Bayat, Allan; Balasubramanian, Meena; Lowenstein, Daniel; Endzinienė, Milda; Alotaibi, Maha; Villeneuve, Nathalie; Jacobs, Julia; Isidor, Bertrand; Solazzi, Roberta; den Hollander, Nicolette; Marjanovic, Dragan; Rougeot‐jung, Christelle; Jung, Julien; Lesieur‐sebellin, Marion; Accogli, Andrea; Salpietro, Vincenzo; Saadi, Nebal; Panagiotakaki, Eleni; Foiadelli, Thomas; Redon, Sylvia; Tsai, Meng‐han; Bisulli, Francesca; Hammer, Trine; Lupski, James; Parrini, Elena; Guerrini, Renzo
Cetica, V, Pisano, T, Lesca, G, Marafi, D, Licchetta, L, Riccardi, F, Mei, D, Chung, H Y B, Bayat, A, Balasubramanian, M, Lowenstein, D H, Endzinienė, M, Alotaibi, M, Villeneuve, N, Jacobs, J, Isidor, B, Solazzi, R, den Hollander, N S, Marjanovic, D, Rougeot-Jung, C, Jung, J, Lesieur-Sebellin, M, Accogli, A, Salpietro, V, Saadi, N W, Panagiotakaki, E, Foiadelli, T, Redon, S, Tsai, M H, Bisulli, F, Hammer, T B, Lupski, J R, Parrini , E & Guerrini, R 2024, ' Clinical and molecular characterization of patients with YWHAG-related epilepsy ', Epilepsia, vol. 65, no. 5, pp. 1439-1450 . https://doi.org/10.1111/epi.17939
Academic Journal
Ferrera, Giulia; Ricci, Emilia; Peron, Angela; Parrini, Elena; Vignoli, Aglai; Canevini, Maria Paola
Neurocase. 30:68-72
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; 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Epilepsia Open. February, 2024, Vol. 9 Issue 1, p417, 7 p.
Academic Journal
Specchio, Nicola; Trivisano, Marina; Lenge, Matteo; Ferretti, Alessandro; Mei, Davide; Parrini, Elena; Napolitano, Antonio; Rossi-Espagnet, Camilla; Talenti, Giacomo; Longo, Daniela; Proietti, Jacopo; Ragona, Francesca; Freri, Elena; Solazzi, Roberta; Granata, Tiziana; Darra, Francesca; Bernardina, Bernardo Dalla; Vigevano, Federico; Guerrini, Renzo
Cereb Cortex
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Alessandro Barbato; Giulia Gori; Michele Sacchini; Francesca Pochiero; Sara Bargiacchi; Giovanna Traficante; Viviana Palazzo; Lucia Tiberi; Claudia Bianchini; Davide Mei; Elena Parrini; Tiziana Pisano; Elena Procopio; Renzo Guerrini; Angela Peron; Stefano Stagi
Endocrine Connections, Vol 13, Iss 10, Pp 1-9 (2024)
Academic Journal
Riva, Martina; Ferreira, Sofia; Hayashi, Kotaro; Saillour, Yoann; Medvedeva, Vera P.; Honda, Takao; Hayashi, Kanehiro; Altersitz, Claire; Albadri, Shahad; Rosello, Marion; Dang, Julie; Serafini, Malo; Causeret, Frederic; Henry, Olivia J.; Roux, Charles-Joris; Bellesme, Celine; Freri, Elena; Josifova, Dragana; Parrini, Elena; Guerrini, Renzo; Del Bene, Filippo; Nakajima, Kazunori; Bahi-Buisson, Nadia; Pierani, Alessandra
Journal of Clinical Investigation. August 15, 2024, Vol. 134 Issue 16
Academic Journal
Alagia, Marianna, MD; Fecarotta, Simona, MD, PhD; Romano, Alfonso, MD; Parrini, Elena, PhD; Auricchio, Gianfranca, MD; Miano, Maria Giuseppina, PhD; Terrone, Gaetano, MD, PhD
Pediatric Neurology. 138:58-61
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Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L.; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H.; Talkowski, Michael; Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; Goldstein, David B.; Feng, Yen-Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Cusick, Caroline; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea E.; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Cavalleri, Gianpiero L.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M.; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bennett, Caitlin A.; Leech, Stephanie L.; Leu, Costin; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Depondti, Chantal; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Yiolanda, Christou; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Neubauer, Bernd A.; Zimprich, Friedrich; Feucht, Martha; Reinthaler, Eva; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias H.; von Wrede, Randi; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R.; Krey, Ilona; Weber, Yvonne G.; Wolking, Stefan; Becker, Felicitas; Lauxmann, Stephan; Bosselmann, Christian; Kegele, Josua; Hengsbach, Christian; Rau, Sarah; Steinhoff, Bernhard J.; Schulze-Bonhage, Andreas; Borggräfe, Ingo; Schankin, Christoph J.; Schubert-Bast, Susanne; Schreiber, Herbert; Mayer, Thomas; Korinthenberg, Rudolf; Brockmann, Knut; Wolff, Markus; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Saarela, Anni; Timonen, Oskari; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rheims, Sylvain; Lesca, Gaetan; Ryvlin, Philippe; Maillard, Louis; Valton, Luc; Derambure, Philippe; Bartolomei, Fabrice; Hirsch, Edouard; Michel, Véronique; Chassoux, Francine; Rees, Mark I.; Chung, Seo-Kyung; Pickrell, William O.; Powell, Robert H. 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Hande; Arslan, Mutluay; Yapıcı, Zuhal; Topaloglu, Pınar; Kara, Bulent; Yis, Uluc; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Tsai, Meng-Han; Ho, Chen-Jui; Lin, Chih-Hsiang; Lin, Kuang-Lin; Chou, I-Jun; Poduri, Annapurna; Shiedley, Beth R.; Shain, Catherine; Noebels, Jeffrey L.; Goldman, Alicia; Busch, Robyn M.; Jehi, Lara; Najm, Imad M.; Ferguson, Lisa; Khoury, Jean; Glauser, Tracy A.; Clark, Peggy O.; Buono, Russell J.; Ferraro, Thomas N.; Sperling, Michael R.; Lo, Warren; Privitera, Michael; French, Jacqueline A.; Schachter, Steven; Kuzniecky, Ruben I.; Devinsky, Orrin; Hegde, Manu; Greenberg, David A.; Ellis, Colin A.; Goldberg, Ethan; Helbig, Katherine L.; Cosico, Mahgenn; Vaidiswaran, Priya; Fitch, Eryn; Newton, Charles R. J. C.; Kariuki, Symon M.; Wagner, Ryan G.; Owusu-Agyei, Seth; Cole, Andrew J.; McGraw, Christopher M.; Siena, S. Anthony; Davis, Lea; Hucks, Donald; Faucon, Annika; Wu, David; Abou-Khalil, Bassel W.; Haas, Kevin; Taneja, Randip S.; null, null
Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6
Nature Communications, vol 14, iss 1
Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature communications
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan L; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys H; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis (2023). Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications, 14(1), p. 4392. Springer Nature 10.1038/s41467-023-39539-6
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Nature Communications 14, 4392 (2023). doi:10.1038/s41467-023-39539-6
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Epilepsia
Epilepsia (Cph.) 62 (2021): 1518–1527. doi:10.1111/epi.16922
info:cnr-pdr/source/autori:Stevelink R; Luykx J. J.; Lin B. D; Leu C; Lal D; Smith A. W; Schijven D; Carpay J. A; Rademaker K; Baldez Roiza A. R.; Devinsky O; Braun Kees P. J.; Jansen Floor E.; Smit Dirk J. A; Koeleman B. P. C; Annesi G; EPY25./titolo:Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations/doi:10.1111%2Fepi.16922/rivista:Epilepsia (Cph.)/anno:2021/pagina_da:1518/pagina_a:1527/intervallo_pagine:1518–1527/volume:62
Epilepsia 62, 1518-1527 (2021)
Epilepsia, vol 62, iss 7
Epilepsia : the journal of the International League Against Epilepsy 62(7), 1518-1527 (2021). doi:10.1111/epi.16922
Epilepsia (Cph.) 62 (2021): 1518–1527. doi:10.1111/epi.16922
info:cnr-pdr/source/autori:Stevelink R; Luykx J. J.; Lin B. D; Leu C; Lal D; Smith A. W; Schijven D; Carpay J. A; Rademaker K; Baldez Roiza A. R.; Devinsky O; Braun Kees P. J.; Jansen Floor E.; Smit Dirk J. A; Koeleman B. P. C; Annesi G; EPY25./titolo:Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations/doi:10.1111%2Fepi.16922/rivista:Epilepsia (Cph.)/anno:2021/pagina_da:1518/pagina_a:1527/intervallo_pagine:1518–1527/volume:62
Epilepsia 62, 1518-1527 (2021)
Epilepsia, vol 62, iss 7
Epilepsia : the journal of the International League Against Epilepsy 62(7), 1518-1527 (2021). doi:10.1111/epi.16922
Academic Journal
McTague, Amy ; Brunklaus, Andreas ; Barcia, Giulia ; Varadkar, Sophia ; Zuberi, Sameer M. ; Chatron, Nicolas ; Parrini, Elena ; Mei, Davide ; Nabbout, Rima ; Lesca, Gaetan
In European Journal of Medical Genetics July 2022 65(7)
Academic Journal
Goad, Beatrice Southby; Rodda, Jill; Allen, Meagan; Bamborschke, Daniel; Overmars, Isabella; Kerr, Rachel J.; Bushlin, Ittai; Chopra, Saurabh; Coorg, Rohini; Dabscheck, Gabriel; Freeman, Jeremy L.; Mackay, Mark T.; Devinsky, Orrin; Guerrini, Renzo; Parrini, Elena; Boelsterli, Bigna; Hughes, Inna; Huh, Linda L.; Kamate, Mahesh; Kunz, Abby B.; Melikishvili, Gia; Miteff, Christina; Myers, Kenneth Alexis; Olson, Heather E.; Poduri, Annapurna; Pillai, Sekhar; Riney, Catherine (Kate); Sinclair, Adriane; Calvert, Sophie; Reynolds, Thomas Q.; Martinez, Ana Roche; Russo, Angelo; Sadleir, Lynette Grant; Sanchez-Albisua, Iciar; Sartori, Stefano; Shea, Stephanie; Smith-Hicks, Constance L.; Spooner, Claire G.; Thomas, Rhys H.; Ardern-Holmes, Simone L.; Webster, Richard Ian; Valeriani, Massimiliano; Veggiotti, Pierangelo; Masnada, Silvia; Ware, Tyson L.; Yoong, Michael; Berecki, Geza; De Dominicis, Angela; Specchio, Nicola; Trivisano, Marina; Moller, Rikke Steensbjerre; Wolff, Markus; Fazeli, Walid; Scheffer, Ingrid; Howell, Katherine B.
Academic Journal
Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena ; Vlaskamp, Danique R.M. ; Bertelsen, Birgitte ; Mandelstam, Simone ; de Lange, Iris ; Zhang, Jing ; Myers, Candace T. ; Fenger, Christina ; Afawi, Zaid ; Almanza Fuerte, Edith P. ; Andrade, Danielle M. ; Balcik, Yunus ; Ben Zeev, Bruria ; Bennett, Mark F. ; Berkovic, Samuel F. ; Isidor, Bertrand ; Bouman, Arjan ; Brilstra, Eva ; Busk, Øyvind L. ; Cairns, Anita ; Caumes, Roseline ; Chatron, Nicolas ; Dale, Russell C. ; de Geus, Christa ; Edery, Patrick ; Gill, Deepak ; Granild-Jensen, Jacob Bie ; Gunderson, Lauren ; Gunning, Boudewijn ; Heimer, Gali ; Helle, Johan R. ; Hildebrand, Michael S. ; Hollingsworth, Georgie ; Kharytonov, Volodymyr ; Klee, Eric W. ; Koeleman, Bobby P.C. ; Koolen, David A. ; Korff, Christian ; Küry, Sébastien ; Lesca, Gaetan ; Lev, Dorit ; Leventer, Richard J. ; Mackay, Mark T. ; Macke, Erica L. ; McEntagart, Meriel ; Mohammad, Shekeeb S. ; Monin, Pauline ; Montomoli, Martino ; Morava, Eva ; Moutton, Sebastien ; Muir, Alison M. ; Parrini, Elena ; Procopis, Peter ; Ranza, Emmanuelle ; Reed, Laura ; Reif, Philipp S. ; Rosenow, Felix ; Rossi, Massimiliano ; Sadleir, Lynette G. ; Sadoway, Tara ; Schelhaas, Helenius J. ; Schneider, Amy L. ; Shah, Krati ; Shalev, Ruth ; Sisodiya, Sanjay M. ; Smol, Thomas ; Stumpel, Connie T.R.M. ; Stuurman, Kyra ; Symonds, Joseph D. ; Mau-Them, Frederic Tran ; Verbeek, Nienke ; Verhoeven, Judith S. ; Wallace, Geoffrey ; Yosovich, Keren ; Zarate, Yuri A. ; Zerem, Ayelet ; Zuberi, Sameer M. ; Guerrini, Renzo ; Mefford, Heather C. ; Patel, Chirag ; Zhang, Yue-Hua ; Møller, Rikke S. ; Scheffer, Ingrid E.
In Genetics in Medicine February 2021 23(2):363-373
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
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