المؤلفون: Boos, Jannik, van der Made, Caspar I, Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V C, de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, Baillie, J Kenneth, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L, Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, Ludwig, Kerstin U

المساهمون: Boos, J, van der Made, C, Ramakrishnan, G, Coughlan, E, Asselta, R, Löscher, B, Valenti, L, de Cid, R, Bujanda, L, Julià, A, Pairo-Castineira, E, Baillie, J, May, S, Zametica, B, Heggemann, J, Albillos, A, Banales, J, Barretina, J, Blay, N, Bonfanti, P, Buti, M, Fernandez, J, Marsal, S, Prati, D, Ronzoni, L, Sacchi, N, Schultze, J, Riess, O, Franke, A, Rawlik, K, Ellinghaus, D, Hoischen, A, Schmidt, A, Ludwig, K

مصطلحات موضوعية: SARS-CoV-2, Toll-like receptor 7, burden analysi, host genetic, immune deficiency, infection, innate immunity, rare variant, targeted sequencing, variant collapsing analysis

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38944683; journal:HGG ADVANCES; https://hdl.handle.net/10281/490505Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100323Test
https://hdl.handle.net/10281/490505Test

المؤلفون: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W., Traynor, Bryan J., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, Scholz, Sonja W.

المساهمون: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vila, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klau, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, Françoi, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christo, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W.

مصطلحات موضوعية: GWAS, MSA, TWAS, colocalization, gene-burden analysi, genome-wide association study, multiple system atrophy, pathway analysi, repeat expansion mapping, transcriptome-wide association study, whole genome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38701790; firstpage:1; lastpage:15; numberofpages:15; journal:NEURON; https://hdl.handle.net/11386/4868519Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85193449341

الإتاحة: https://doi.org/10.1016/j.neuron.2024.04.002Test
https://hdl.handle.net/11386/4868519Test

المؤلفون: Marom T., Pitaro J., Shah U. K., Torretta S., Marchisio P., Kumar A. T., Barth P. C., Tamir S. O.

المساهمون: T. Marom, J. Pitaro, U.K. Shah, S. Torretta, P. Marchisio, A.T. Kumar, P.C. Barth, S.O. Tamir

مصطلحات موضوعية: acute otitis media, admission, burden analysi, coronavirus infection, COVID-19, mastoiditi, otitis media, otitis media with effusion, Child, Communicable Disease Control, Human, Pandemic, SARS-CoV-2, Settore MED/10 - Malattie dell'Apparato Respiratorio

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35071032; info:eu-repo/semantics/altIdentifier/wos/WOS:000756965600001; volume:11; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY; http://hdl.handle.net/2434/904760Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123181767

الإتاحة: https://doi.org/10.3389/fcimb.2021.749911Test
http://hdl.handle.net/2434/904760Test

المؤلفون: Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Luca Giovanni Di Giovannantonio, Sara Pietracupa, Daniela Ruggiero, Simona Scala, Stefano Gambardella, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Helene Plun-Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John Quinn, Vivien Bubb, Kin Y. Mok, Kerri J. Kinghorn, Kimberley Billingsley, Nicholas W. Wood, Patrick Lewis, Sebastian Schreglmann, Ruth Lovering, Lea R???Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott-Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen E. Morrison, Carl Clarke, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean-Christophe Corvol, Maria Martinez, Claudia Schulte, Kathrin Brockmann, Javier Sim??n-S??nchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Mark R. Cookson, Sara Bandres-Ciga, Cornelis Blauwendraat, David W. Craig, Derek Narendra, Faraz Faghri, J. Raphael Gibbs, Dena G. Hernandez, Kendall Van Keuren-Jensen, Joshua M. Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, Jose Bras, Rita Guerreiro, Steven Lubbe, Steven Finkbeiner, Niccolo E. Mencacci, Codrin Lungu, Andrew B. Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan-Or, Guy A. Rouleau, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid D. Adarmes-G??mez, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Francisco Javier Barrero, Jes??s Alberto Bergareche Yarza, Inmaculada Bernal-Bernal, Marta Blazquez, Marta Bonilla-Toribio, Juan A. Bot??a, Mar??a Teresa Boungiorno, Dolores Buiza-Rueda, F??tima Carrillo, Mario Carri??n-Claro, Debora Cerdan, Jordi Clarim??n, Yaroslau Compta, Monica Diez-Fairen, Oriol Dols-Icardo, Jacinto Duarte, Raquel Duran, Francisco Escamilla-Sevilla, Mario Ezquerra, Cici Feliz, Manel Fern??ndez, Rub??n Fern??ndez-Santiago, Ciara Garcia, Pedro Garc??a-Ruiz, Pilar G??mez-Garre, Maria Jose Gomez Heredia, Isabel Gonzalez-Aramburu, Ana Gorostidi Pagola, Janet Hoenicka, Jon Infante, Silvia Jes??s, Adriano Jimenez-Escrig, Jaime Kulisevsky, Miguel A. Labrador-Espinosa, Jose Luis Lopez-Sendon, Adolfo L??pez de Munain Arregui, Daniel Macias, Irene Mart??nez Torres, Juan Mar??n, Maria Jose Marti, Juan Carlos Mart??nez-Castrillo, Carlota M??ndez-del-Barrio, Manuel Men??ndez Gonz??lez, Marina Mata, Adolfo M??nguez, Pablo Mir, Elisabet Mondragon Rezola, Esteban Mu??oz, Javier Pagonabarraga, Pau Pastor, Francisco Perez Errazquin, Teresa Peri????n-Tocino, Javier Ruiz-Mart??nez, Clara Ruz, Antonio Sanchez Rodriguez, Mar??a Sierra, Esther Suarez-Sanmartin, Cesar Tabernero, Juan Pablo Tartari, Cristina Tejera-Parrado, Eduard Tolosa, Francesc Valldeoriola, Laura Vargas-Gonz??lez, Lydia Vela, Francisco Vives, Alexander Zimprich, Lasse Pihlstrom, Mathias Toft, Sulev Koks, Pille Taba, Sharon Hassin-Baer, Kari Majamaa, Ari Siitonen, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Chingiz Shashkin, Nazira Zharkynbekova, Vadim Akhmetzhanov, Akbota Aitkulova, Elena Zholdybayeva, Zharkyn Zharmukhanov, Gulnaz Kaishybayeva, Altynay Karimova, Dinara Sadykova, Licia Iacoviello, Fernando Gianfrancesco, Dario Acampora, Maurizio D???Esposito, Antonio Simeone, Marina Ciullo, Teresa Esposito

المساهمون: Gialluisi, Alessandro, Giovanna Reccia, Mafalda, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Giovanni Di Giovannantonio, Luca, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Lovering, Ruth, R???bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thoma, Williams, Nigel, Morrison, Karen E., Clarke, Carl, Brice, Alexi, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Sim??n-S??nchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thoma, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Corneli, Craig, David W., Narendra, Derek, Faghri, Faraz, Raphael Gibbs, J., Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-G??mez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, Francisco, Alberto Bergareche Yarza, Jes?, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Bot??a, Juan A., Teresa Boungiorno, Mar??a, Buiza-Rueda, Dolore, Carrillo, F??tima, Carri??n-Claro, Mario, Cerdan, Debora, Clarim??n, Jordi, Compta, Yaroslau

مصطلحات موضوعية: Late onset Parkinson’s disease, Novel candidate genes for Parkinson’s disease, Rare variant burden analysi, Whole exome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34148545; info:eu-repo/semantics/altIdentifier/wos/WOS:000663676300001; volume:16; issue:1; journal:MOLECULAR NEURODEGENERATION; https://hdl.handle.net/11573/1705741Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108675143

الإتاحة: https://doi.org/10.1186/s13024-021-00455-2Test
https://hdl.handle.net/11573/1705741Test

المؤلفون: Koko M., Krause R., Sander T., Bobbili D. R., Nothnagel M., May P., Lerche H., Epi25 Collaborative, Bisulli F., Tinuper P., Pippucci T.

المساهمون: Koko M., Krause R., Sander T., Bobbili D.R., Nothnagel M., May P., Lerche H., Epi25 Collaborative, Bisulli F., Tinuper P., Pippucci T.

مصطلحات موضوعية: Burden analysi, Epilepsy, Exome sequencing, Gene-set, Ultra-rare variant, Case-Control Studie, Epilepsies, Partial, Generalized, Exome, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Whole Exome Sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34571366; info:eu-repo/semantics/altIdentifier/wos/WOS:000703696900002; volume:72; firstpage:103588; lastpage:103588; numberofpages:13; journal:EBIOMEDICINE; http://hdl.handle.net/11585/854161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115643859; https://www.sciencedirect.com/science/article/pii/S2352396421003819?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.ebiom.2021.103588Test
http://hdl.handle.net/11585/854161Test
https://www.sciencedirect.com/science/article/pii/S2352396421003819?via=ihubTest

المؤلفون: Somigliana, AB, Barbieri, PG, Cavallo, A, Colombo, R, Consonni, D, Mirabelli, D

المساهمون: Somigliana, A, Barbieri, P, Cavallo, A, Colombo, R, Consonni, D, Mirabelli, D

مصطلحات موضوعية: Asbesto, fibre length, Helsinki Consensus Report, lung burden analysi, SEM, GEO/09 - GEORISORSE MINERARIE E APPLICAZIONI MINERALOGICO-PETROGRAFICHE PER L'AMBIENTE E I BENI CULTURALI

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37995092; volume:35; issue:11-12; firstpage:300; lastpage:307; numberofpages:8; journal:INHALATION TOXICOLOGY; https://hdl.handle.net/10281/451699Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177555688

الإتاحة: https://doi.org/10.1080/08958378.2023.2285789Test
https://hdl.handle.net/10281/451699Test

المؤلفون: Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Iacoviello, Licia, Gianfrancesco, Fernando, Acampora, Dario, D'Esposito, Maurizio, Simeone, Antonio, Ciullo, Marina, Esposito, Teresa

المساهمون: Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Iacoviello, Licia, Gianfrancesco, Fernando, Acampora, Dario, D'Esposito, Maurizio, Simeone, Antonio, Ciullo, Marina, Esposito, Teresa

مصطلحات موضوعية: Late onset Parkinson’s disease, Novel candidate genes for Parkinson’s disease, Rare variant burden analysi, Whole exome sequencing, Adult, Age of Onset, Aged, Female, Genetic Predisposition to Disease, Human, Male, Middle Aged, Parkinson Disease, Pedigree

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000663676300001; volume:16; issue:1; firstpage:35; journal:MOLECULAR NEURODEGENERATION; http://hdl.handle.net/11576/2696146Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108675143

الإتاحة: https://doi.org/10.1186/s13024-021-00455-2Test
http://hdl.handle.net/11576/2696146Test

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: Wolking S., Moreau C., Nies A. T., Schaeffeler E., McCormack M., Auce P., Avbersek A., Becker F., Krenn M., Moller R. S., Nikanorova M., Weber Y. G., Weckhuysen S., Cavalleri G. L., Delanty N., Depondt C., Johnson M. R., Koeleman B. P. C., Kunz W. S., Marson A. G., Sander J. W., Sills G. J., Striano P., Zara F., Zimprich F., Schwab M., Krause R., Sisodiya S. M., Cossette P., Girard S. L., Lerche H.

المساهمون: Wolking, S., Moreau, C., Nies, A. T., Schaeffeler, E., Mccormack, M., Auce, P., Avbersek, A., Becker, F., Krenn, M., Moller, R. S., Nikanorova, M., Weber, Y. G., Weckhuysen, S., Cavalleri, G. L., Delanty, N., Depondt, C., Johnson, M. R., Koeleman, B. P. C., Kunz, W. S., Marson, A. G., Sander, J. W., Sills, G. J., Striano, P., Zara, F., Zimprich, F., Schwab, M., Krause, R., Sisodiya, S. M., Cossette, P., Girard, S. L., Lerche, H.

مصطلحات موضوعية: burden analysi, lamotrigine, levetiracetam, pharmacogenomic, rare variant, valproic acid

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000528031000009; volume:61; firstpage:657; lastpage:666; numberofpages:10; journal:EPILEPSIA; http://hdl.handle.net/11567/1021894Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081555698

الإتاحة: https://doi.org/10.1111/epi.16467Test
http://hdl.handle.net/11567/1021894Test

المؤلفون: Depondt C., Dlugos D. J., Scheffer I. E., Reif P. S., von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., McCormack M., El-Naggar H., Canafoglia L., Granata T., Zara F., Ozkara C., Heinzen E. L., Dhindsa R. S., Lal D., Stanley K. E., Petrovski S., May P., Mo K., Krestel H., Knake S., Kunz W. S., Zsurka G., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Marson A. G., Stewart R., Elger C. E., Rosenow F., De Jonghe P., Piras F., Palotie A., Pato M. T., Johnstone M., Bellows S. T., Leu C., Bennett C. A., Johns E. M. C., Kluger G., Hausler M., Blatt I., Lemke J. R., Lehrer D. S., Mountier E., Poduri A., Shiedley B. R., Shain C., Gili T., Kamalakaran S., Cerrato F., Fanous A. H., Singh T., McCarroll S. A., King C., Kanaan M., Canavati C., Kurlemann G., Inoue Y., Yamakawa K., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Cavalleri G. L., Hakonarson H., Helbig I., Krause R., Weckhuysen S., Powell R., Schneider N., Malaspina D., Marder S. R., Medeiros H., McKenna K., Heyne H., Vlckova M., Lassuthova P., Sedlackova L., Klein K. M., Macciardi F., Rapaport M. H., Knowles J. A., Tumiene B., Sadleir L. G., Helbig K. L., Ellis C. A., Spalletta G., Gundogdu-Eken A., Krey I., Weber Y. G., Balestrini S., Zagaglia S., Braatz V., Bromet E. J., Andrade D. M., Sadoway T. R., Franceschetti S., Castellotti B., Baum L. W., Sham P. C., Maisch A. F., Wolking S., Becker F., Hengsbach C., Rau S., Steinhoff B. J., Morley C. P., Perkins D. O., Sobell J. L., Buckley P. F., Gabriel S. B., Daly M. J., Lander E. S., Gupta N., Johnson M. R., Auce P., Sills G. J., Byrnes A., Churchhouse C., Watts N., Solomonson M., Cotsapas C., Dixon-Salazar T., Guerrini R., Kwan P., Vari M. S., Mancardi M. M., Madia F., Schubert-Bast S., Schulze-Bonhage A., Achtyes E. D., Pato C. N., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Azevedo M. H., Kotov R., Lo W., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Ferraro T. N., Sperling M. R., Privitera M., French J. A., Baykan B., Salman B., Manna L., Minardi R., Gambardella A., Kalviainen R., Auvinen P., Muller-Schluter K., Macdonald A., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Lowenstein D. H., Goldstein D. B., Lerche H., Berkovic S. F., Neale B. M., Cherny S. S., Lui C. H. T., Barisic N., McQuillin A., Bass N., Muhle H., McIntosh A., Ciullo V., Yapici Z., Caglayan S. H., Reif A., Blackwood D., Iacomino M., Carvalho C. B., Arslan M., Labate A., Annesi G., Gagliardi M., Buono R. J., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Parrini E., Khankhanian P., Sisodiya S. M., Cossette P., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Striano P., Freyer C., Pippucci T., Stipa C., Yis U., Topaloglu P., Bebek N., Ugur-Iseri S., Kara B., Turkdogan D., Mei D., Haryanyan G., Yucesan E., Kesim Y., Regan B. M., Bauer J., Rademacher M., Pendziwiat M., Rademacher A., van Baalen A., Delanty N., Doherty C. P., Shukralla A.

المساهمون: Depondt, C., Dlugos, D. J., Scheffer, I. E., Reif, P. S., von Spiczak, S., Stephani, U., Afawi, Z., Korczyn, A. D., Mccormack, M., El-Naggar, H., Canafoglia, L., Granata, T., Zara, F., Ozkara, C., Heinzen, E. L., Dhindsa, R. S., Lal, D., Stanley, K. E., Petrovski, S., May, P., Mo, K., Krestel, H., Knake, S., Kunz, W. S., Zsurka, G., Gallati, S., Papacostas, S. S., Kousiappa, I., Tanteles, G. A., Sterbova, K., Marson, A. G., Stewart, R., Elger, C. E., Rosenow, F., De Jonghe, P., Piras, F., Palotie, A., Pato, M. T., Johnstone, M., Bellows, S. T., Leu, C., Bennett, C. A., Johns, E. M. C., Kluger, G., Hausler, M., Blatt, I., Lemke, J. R., Lehrer, D. S., Mountier, E., Poduri, A., Shiedley, B. R., Shain, C., Gili, T., Kamalakaran, S., Cerrato, F., Fanous, A. H., Singh, T., Mccarroll, S. A., King, C., Kanaan, M., Canavati, C., Kurlemann, G., Inoue, Y., Yamakawa, K., Vetro, A., Bianchini, C., Montomoli, M., Doccini, V., Marini, C., Suzuki, T., Cavalleri, G. L., Hakonarson, H., Helbig, I., Krause, R., Weckhuysen, S., Powell, R., Schneider, N., Malaspina, D., Marder, S. R., Medeiros, H., Mckenna, K., Heyne, H., Vlckova, M., Lassuthova, P., Sedlackova, L., Klein, K. M., Macciardi, F., Rapaport, M. H., Knowles, J. A., Tumiene, B., Sadleir, L. G., Helbig, K. L., Ellis, C. A., Spalletta, G., Gundogdu-Eken, A., Krey, I., Weber, Y. G., Balestrini, S., Zagaglia, S., Braatz, V.

مصطلحات موضوعية: burden analysi, epilepsy, epileptic encephalopathy, exome, seizure, sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000478022200004; volume:105; issue:2; firstpage:267; lastpage:282; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3231769Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069831549

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.05.020Test
http://hdl.handle.net/11570/3231769Test