المؤلفون: Liyen K. Kan, Matthew Drill, Padmakrishnan C. Jayakrishnan, Richard P. Sequeira, Emily Galea, Marian Todaro, Paul G. Sanfilippo, Martin Hunn, David A. Williams, Terence J. O’Brien, Katharine J. Drummond, Mastura Monif

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/217946cd9db6460185f7b8e383ee1cf2Test

المؤلفون: Jianxiong Chan, Gita V. Soraya, Lauren Craig, Shah M. Uddin, Marian Todaro, Duc H. Huynh, Chathurika D. Abeyrathne, Lyudmila Kostenko, James McCluskey, Efstratios Skafidas, Patrick Kwan

المصدر: Sensors, Vol 19, Iss 16, p 3543 (2019)

مصطلحات موضوعية: human leukocyte antigen, interdigitated electrodes, impedance sensor, protein sensor, point-of-care diagnostics, pharmacogenetics, Chemical technology, TP1-1185

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1424-8220/19/16/3543Test; https://doaj.org/toc/1424-8220Test

الوصول الحر: https://doaj.org/article/c86b9cc954ef41f1ba52d5aacf8eaca8Test

المؤلفون: Zimeng Ye, Mark F. Bennett, Andrew Neal, Joshua A. Laing, Martin K. Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K. Patel, Melanie Bahlo, Patrick Kwan, Terence J. O'Brien, Ingrid E. Scheffer, Samuel F. Berkovic, Piero Perucca, Michael S. Hildebrand

المصدر: Neurology. 99:1036-1041

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b4ba6e77d3d89cd76672242c4245de84Test
https://doi.org/10.1212/wnl.0000000000201469Test

المؤلفون: Schijven D., Stevelink R., McCormack M., van Rheenen W., Luykx J. J., Koeleman B. P. C., Veldink J. H., Aleksey Shatunov, Russell L. McLaughlin, Rick A. A. van der Spek, Alfredo Iacoangeli, Kevin P. Kenna, Kristel R. van Eijk, Nicola Ticozzi, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Marta Gromicho, Ana Pronto-Laborinho, Jesus S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazli Basak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian R. Andres, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A. M. Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W. Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Markus Weber, Christopher E. Shaw, Bradley N. Smith, Daisy Sproviero, Cristina Cereda, Mauro Ceroni, Luca Diamanti, Roberto Del Bo, Stefania Corti, Giacomo P. Comi, Sandra D'Alfonso, Lucia Corrado, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Ian Blair, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Julian Grosskreutz, Otto W. Witte, Robert Steinbach, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A. Hübner, P. Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C. Ludolph, Jochen H. Weishaupt, Wim Robberecht, Philip Van Damme, Robert H. Brown, Jonathan D. Glass, John E. Landers, Orla Hardiman, Peter M. Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Michael A. van Es, R. Jeroen Pasterkamp, Cathryn M. Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H. van den Berg, Jan H. Veldink, Daniela Calini, Isabella Fogh, Barbara Castellotti, Franco Taroni, Stella Gagliardi, Giacomo Comi, Sandra D’Alfonso, Elena Pegoraro, Giorgia Querin, Francesca Gerardi, Fabrizio Rinaldi, Maria Sofia Cotelli, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Giancarlo Comi, Carlo Ferrarese, Lucio Tremolizzo, Marialuisa Delodovici, Giorgio Bono, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, Bruno Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Roberto Cantello, Enrica Bersano, Dario Giobbe, Maurizio Gionco, Daniela Leotta, Lucia Appendino, Cavallo Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Paola Santimaria, Umberto Massazza, Antonio Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Franco Vergnano, Paolo Provera, Maria Teresa Penza, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Ilaria Pastore, Paolo Ghiglione, Danilo Seliak, Nicola Launaro, Giovanni Astegiano, Bottacchi Edo, Isabella Laura Simone, Stefano Zoccolella, Michele Zarrelli, Franco Apollo, William Camu, Jean Sebastien Hulot, Francois Viallet, Philippe Couratier, David Maltete, Christine Tranchant, Marie Vidailhet, Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G F de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J Dlugos, Colin P Doherty, Christian E Elger, Johan G Eriksson, Thomas N Ferraro, Martha Feucht, Ben Francis, Jacqueline A French, Saskia Freytag, Verena Gaus, Eric B Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B Goldstein, Hongsheng Gui, Youling Guo, Kevin F Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Michael R Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E Kirsch, Robert C Knowlton, Bobby P C Koeleman, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Dick Lindhout, Warren D Lo, Iscia Lopes-Cendes, Daniel H Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L Mills, Nasir Mirza, Martina Moerzinger, Rikke S Møller, Anne M Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M Nöthen, Peter Nürnberg, Terence J O’Brien, Karen L Oliver, Aarno Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S Reif, Eva M Reinthaler, Felix Rosenow, Josemir W Sander, Thomas Sander, Theresa Scattergood, Steven C Schachter, Christoph J Schankin, Ingrid E Scheffer, Bettina Schmitz, Susanne Schoch, Pak C Sham, Jerry J Shih, Graeme J Sills, Sanjay M Sisodiya, Lisa Slattery, Alexander Smith, David F Smith, Michael C Smith, Philip E Smith, Anja C M Sonsma, Doug Speed, Michael R Sperling, Bernhard J Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S Vari, Eileen P G Vining, Frank Visscher, Sarah von Spiczak, Nicole M Walley, Yvonne G Weber, Zhi Wei, Judith Weisenberg, Christopher D Whelan, Peter Widdess-Walsh, Markus Wolff, Stefan Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

المساهمون: D., Schijven, R., Stevelink, M., Mccormack, W., van Rheenen, J. J., Luykx, B. P. C., Koeleman, J. H., Veldink, Shatunov, Aleksey, Mclaughlin, Russell L., van der Spek, Rick A. A., Iacoangeli, Alfredo, Kenna, Kevin P., van Eijk, Kristel R., Ticozzi, Nicola, Rogelj, Bori, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Dolenc Grošelj, Leja, Millecamps, Stéphanie, Salachas, Françoi, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Gromicho, Marta, Pronto-Laborinho, Ana, Mora, Jesus S., Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thoma, Ophoff, Roel A., Staats, Kim A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, Mccluskey, Leo, Nazli Basak, A., Meitinger, Thoma, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexi, Payan, Christine A. M., Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W., Tittmann, Luka, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Françoi, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charle, van der Kooi, Anneke J., Weber, Marku, Shaw, Christopher E., Smith, Bradley N., Sproviero, Daisy, Cereda, Cristina, Ceroni, Mauro, Diamanti, Luca, Del Bo, Roberto, Corti, Stefania, Comi, Giacomo P., D'Alfonso, Sandra, Corrado, Lucia, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia

مصطلحات موضوعية: ALS, Epilepsy, Genetic correlation, Amyotrophic Lateral Sclerosi, Gene Frequency, Human, Risk, Genetic Variation, Genome-Wide Association Study, Negative Results

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32409253; info:eu-repo/semantics/altIdentifier/wos/WOS:000539467300016; volume:92; firstpage:153; numberofpages:8; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/11577/3443731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084453564

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2020.04.011Test
http://hdl.handle.net/11577/3443731Test

المؤلفون: Shobi Sivathamboo, Zining Liu, Fiona Sutherland, Erica Minato, Pablo Casillas-Espinosa, Nigel C. Jones, Marian Todaro, Udaya Seneviratne, Varduhi Cahill, Raju Yerra, Christopher French, John-Paul Nicolo, Piero Perucca, Patrick Kwan, Paul Sparks, Terence J. O'Brien

المصدر: Neurology. 98:e1923-e1932

مصطلحات موضوعية: Drug Resistant Epilepsy, Epilepsy, Bradycardia, Tachycardia, Ventricular, cardiovascular system, Humans, Arrhythmias, Cardiac, Prospective Studies, Neurology (clinical), Sudden Unexpected Death in Epilepsy, Heart Arrest

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1edc7198267822d5aa71630bf6a48eTest
https://doi.org/10.1212/wnl.0000000000200173Test

المؤلفون: Zimeng, Ye, Mark F, Bennett, Andrew, Neal, Joshua A, Laing, Martin K, Hunn, Thanomporn, Wittayacharoenpong, Marian, Todaro, Sheila K, Patel, Melanie, Bahlo, Patrick, Kwan, Terence J, O'Brien, Ingrid E, Scheffer, Samuel F, Berkovic, Piero, Perucca, Michael S, Hildebrand

المصدر: Neurology.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::af810ae9bfd23f03c49dab05226c2c9aTest
https://pubmed.ncbi.nlm.nih.gov/36192176Test

المؤلفون: Shobi Sivathamboo, Duong Nhu, Loretta Piccenna, Anthony Yang, Ana Antonic-Baker, Swarna Vishwanath, Marian Todaro, Lim Wei Yap, Levin Kuhlmann, Wenlong Cheng, Terence J. O'Brien, Natasha A. Lannin, Patrick Kwan

المصدر: Neurology. 99(13)

مصطلحات موضوعية: Death, Sudden, Wearable Electronic Devices, Epilepsy, Caregivers, Seizures, Humans, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2293d4146a19ff8b391c2d6749a0c280Test
https://pubmed.ncbi.nlm.nih.gov/35705497Test

المؤلفون: Terence J. O'Brien, Michael C H Li, Marian Todaro, Kim L. Powell

المصدر: Epilepsia. 60:1753-1767

مصطلحات موضوعية: 0301 basic medicine, Long QT syndrome, Sudden death, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, Sudden Unexpected Death in Epilepsy, Ion channel, Cardiac channelopathy, Cardiac electrophysiology, business.industry, Sodium channel, Arrhythmias, Cardiac, Heart, medicine.disease, Potassium channel, 030104 developmental biology, Neurology, cardiovascular system, Channelopathies, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1670a187f8591564d70c2a364b4278Test
https://doi.org/10.1111/epi.16301Test

المؤلفون: Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M Sisodiya, Patrick Cossette, Chris Cotsapas, Peter DeJonghe, Tracy Dixon-Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis J Dlugos, Ingrid E Scheffer, Pasquale Striano, Catharine Freyer, Kevin McKenna, Brigid M Regan, Susannah T Bellows, Costin Leu, Caitlin A Bennett, Esther M C Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J O'Brien, Marian Todaro, Hannah Stamberger, Danielle M Andrade, Tara R Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S Papacostas, Ioanna Kousiappa, George A Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S Reif, Susanne Knake, Wolfram S Kunz, Gábor Zsurka, Christian E Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas vanBaalen, Sarah vonSpiczak, Ulrich Stephani, Zaid Afawi, Amos D Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R Lemke, Ilona Krey, Yvonne G Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F Maisch, Bernhard J Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I Rees, Seo-Kyung Chung, William O Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R Johnson, Pauls Auce, Graeme J Sills, Larry W Baum, Pak C Sham, Stacey S Cherny, Colin H T Lui, Nina Barišić, Norman Delanty, Colin P Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Lynette G Sadleir, Chontelle King, Emily Mountier, Hande S Caglayan, Mutluay Arslan, Zuhal Yapıcı, Uluc Yis, Pınar Topaloglu, Bulent Kara, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R Shiedley, Catherine Shain, Russell J Buono, Thomas N Ferraro, Michael R Sperling, Warren Lo, Michael Privitera, Jacqueline A French, Steven Schachter, Ruben I Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L Helbig, Colin A Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nick Bass, Andrew McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T Pato, Carlos N Pato, Evelyn J Bromet, Celia Barreto Carvalho, Eric D Achtyes, Maria Helena Azevedo, Roman Kotov, Douglas S Lehrer, Dolores Malaspina, Stephen R Marder, Helena Medeiros, Christopher P Morley, Diana O Perkins, Janet L Sobell, Peter F Buckley, Fabio Macciardi, Mark H Rapaport, James A Knowles, Genomic Psychiatry Cohort, Ayman H Fanous, Steven A McCarroll, Namrata Gupta, Stacey B Gabriel, Mark J Daly, Eric S Lander, Daniel H Lowenstein, David B Goldstein, Samuel F Berkovic, Benjamin M Neale

المساهمون: Epi25 Collaborative, Koko M., Krause R., Sander T., Bobbili D.R., Nothnagel M., May P., Lerche H., Bisulli F., Tinuper P., Pippucci T., Abbott, Liam E., Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Tashman, Katherine, Korinthenberg, Rudolf, Brockmann, Knut, Kurlemann, Gerhard, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Cerrato, Felecia, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Singh, Tarjinder, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišic, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, Heyne, Henrike, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Byrnes, Andrea, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Churchhouse, Claire, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Watts, Nick, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, Hande S., Arslan, Mutluay, Yapici, Zuhal, Yis, Uluc, Solomonson, Matthew, Topaloglu, Pinar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Asli, Bebek, Nerses, Ugur-Iseri, Sibel, Baykan, Betül, Salman, Baris, Haryanyan, Garen, Yücesan, Emrah, Lal, Dennis, Kesim, Yesim, Özkara, Çigdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, Heinzen, Erin L., French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Dhindsa, Ryan S., Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Stanley, Kate E., Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Cavalleri, Gianpiero L., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Cohort, Genomic Psychiatry, Fanous, Ayman H., Hakonarson, Hakon, McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., Neale, Benjamin M., Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Feng, Yen-Chen Anne, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Howrigan, Daniel P., Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, DFG Research Unit FOR-2715 (Germany), FNR (Luxembourg), NHGRI (US), NHLBI (US), DAAD (Germany). [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

المصدر: EBioMedicine
EBioMedicine 72, 103588 (2021). doi:10.1016/j.ebiom.2021.103588
eBioMedicine, Amsterdam : Elsevier BV, 2021, vol. 72, art. no. 103588, p. [1-13]
EBioMedicine, Vol 72, Iss, Pp 103588-(2021)

مصطلحات موضوعية: Exome sequencing, Male, Medicine (General), Neurology [D14] [Human health sciences], Gene-set, Genome-wide association study, Disease, Biology, Epileptogenesis, General Biochemistry, Genetics and Molecular Biology, Whole Exome Sequencing, Epilepsy, R5-920, medicine, Missense mutation, Humans, Exome, Genetic Predisposition to Disease, Gene, Genetic association, Ultra-rare variant, Genetics, Neurologie [D14] [Sciences de la santé humaine], Burden analysis, Genetic Variation, General Medicine, medicine.disease, Ultra-rare variants, Gene-sets, Case-Control Studies, Medicine, epilepsy, Epilepsy, Generalized, Female, Genetics & genetic processes [F10] [Life sciences], Epilepsies, Partial, Human medicine, Burden analysi, Génétique & processus génétiques [F10] [Sciences du vivant], Case-Control Studie, Research Paper, Genome-Wide Association Study, Human

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fe35829e5d31e7bb47814575c43325Test
https://hdl.handle.net/10067/1861950151162165141Test

المؤلفون: Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al- len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka- therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou- siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart- ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An- nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs- bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe, ChristophJ.Schankin, SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas- soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law- thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, the epilepsies: A whole-exome sequencing study of 29, 165 individuals, The American Journal of Human Genetics (2021), https://doi.org/10.1016/j.ajhg.2021.04.009Test Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An- tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie- tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa- betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor- enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At- sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To- paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun- dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih- Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac- queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis- waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein.

المساهمون: Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leu C., Leech S.L., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E.M., Kunz W.S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B.J., Schulze-Bonhage A., Borggrafe I., Schankin C.J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A.-E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Baker M.D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Delanty N., Doherty C.P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M.S., Salpietro V., Scala M., Mancardi M.M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L.G., King C., Caglayan S.H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Tsai M.-H., Ho C.-J., Lin C.-H., Lin K.-L., Chou I.-J., Poduri A., Shiedley B.R., Shain C., Noebels J.L., Goldman A., Busch R.M., Jehi L., Najm I.M., Ferguson L., Khoury J., Glauser T.A., Clark P.O., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Greenberg D.A., Ellis C.A., Goldberg E., Helbig K.L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S.F., Lerche H., Lowenstein D.H., Goldstein D.B., Epi25 Collaborative, Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: American journal of human genetics (2021). doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, The American Journal of Human Genetics (2021), https:%2F%2Fdoi.org%2F10.1016%2Fj.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An-tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie-tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa-betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor-enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At-sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To-paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun-dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac-queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis-waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, and David B. Goldstein./titolo:Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
Am J Hum Genet
The American journal of human genetics
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.965-982. ⟨10.1016/j.ajhg.2021.04.009⟩

مصطلحات موضوعية: 0301 basic medicine, focal epilepsy, Whole Exome Sequencing, Cohort Studies, Epilepsy, 0302 clinical medicine, Genetic Marker, Missense mutation, Exome, whole-exome sequencing, generalized epilepsy, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing, seizures, Genetics, ClinVar, Phenotype, epileptic encephalopathy, Epi25, intolerance, Case-Control Studie, Human, Genetic Markers, seizure, Disease Association, Biology, Article, 03 medical and health sciences, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Generalized epilepsy, Gene, Louvain, [SCCO.NEUR]Cognitive science/Neuroscience, Correction, Genetic Variation, medicine.disease, epilepsy, Human genetics, 030104 developmental biology, Case-Control Studies, Human medicine, Cohort Studie, Genetic generalized epilepsy, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a3f002b08a8ae18fc947d461f34dcd3Test
http://hdl.handle.net/11585/854070Test