학술논문
'학술논문'
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1~10
Academic Journal
Garcia, Eva Alarcon; Alejos, Alberto Dorado; Fernandez, Juan Jesus Padilla; Garcia, Alejandra Garcia; Martinez, Luis Arboledas; Triguero, Laura Vico; Cortes, Francisco Contreras
Academic Journal
Juliana Ribeiro-Constante; Alba Tristán-Noguero; Fernando Francisco Martínez Calvo; Salvador Ibañez-Mico; José Luis Peña Segura; José Miguel Ramos-Fernández; María del Carmen Moyano Chicano; Rafael Camino León; Víctor Soto Insuga; Elena González Alguacil; Carlos Valera Dávila; Alberto Fernández-Jaén; Laura Plans; Ana Camacho; Nuria Visa-Reñé; María del Pilar Martin-Tamayo Blázquez; Fernando Paredes-Carmona; Itxaso Marti-Carrera; Aránzazu Hernández-Fabián; Meritxell Tomas Davi; Merce Casadesus Sanchez; Laura Cuesta Herraiz; Patricia Fuentes Pita; Teresa Bermejo Gonzalez; Mar O'Callaghan; Federico Felipe Iglesias Santa Polonia; María Rosario Cazorla; María Teresa Ferrando Lucas; Antonio González-Meneses; Júlia Sala-Coromina; Alfons Macaya; Amaia Lasa-Aranzasti; Anna Ma Cueto-González; Francisca Valera Párraga; Jaume Campistol Plana; Mercedes Serrano; Xenia Alonso; Diego Del Castillo-Berges; Marc Schwartz-Palleja; Sofía Illescas; Alia Ramírez Camacho; Oscar Sans Capdevila; Angeles García-Cazorla; Àlex Bayés; Itziar Alonso-Colmenero
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Academic Journal
Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E.H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L.I.; Holwerda, Sjoerd J.B.; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan
In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221
Academic Journal
Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A; VanHasselt, Peter M; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Undiagnosed Diseases Network; Schoch, Kelly; Sullivan, Jennifer A; Pinto E Vairo, Filippo; Pichurin, Pavel N; Ewing, Sarah A; Barnett, Sarah S; Klee, Eric W; Perry, M Scott; Koenig, Mary Kay; Keegan, Catherine E; Schuette, Jane L; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D; Rosenfeld, Jill A; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E; Steeves, Marcie A; Hollander, Nicolette den; Hoffer, Mariëtte JV; Reijnders, Margot RF; Demirdas, Serwet; Koboldt, Daniel C; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E; Shieh, Christine; Sanchez-Lara, Pedro A; Graham, John M; Tezcan, Kamer; Schaefer, GB; Danylchuk, Noelle R; Asamoah, Alexander; Jackson, Kelly E; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A; Kleefstra, Tjitske
Biological psychiatry. 87(2)
Academic Journal
Lewis, Hannah; Samanta, Debopam; Örsell, Jenny-Li; Bosanko, Katherine; Rowell, Amy; Jones, Melissa; Dale, Russell; Taravath, Sasidharan; Hahn, Cecil; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E; Arndt, Daniel; Alexander, John; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas; Raggio, Víctor; Cruz, Marcos; Fernández-Jaén, Alberto; Kava, Maina; Emrick, Lisa; Fish, Jennifer; Vanderver, Adeline; Helman, Guy; Pierson, Tyler; Zarate, Yuri
Electronic Resource
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido
Kassabian , B , Levy , A M , Gardella , E , Aledo-Serrano , A , Ananth , A L , Brea-Fernández , A J , Caumes , R , Chatron , N , Dainelli , A , De Wachter , M , Denommé-Pichon , A-S , Dye , T J , Fazzi , E , Felt , R , Fernández-Jaén , A , Fernández-Prieto , M , Gantz , E , Gasperowicz , P , Gil-Nagel , A , Gómez-Andrés , D , Greiner , H M , Guerrini , R , Haanpää , M K , Helin , M , Hoyer , J , Hurst , A C E , Kallish , S , Karkare , S N , Khan , A , Kleinendorst , L , Koch , J , Kothare , S V , Koudijs , S M , Lagae , L , Lakeman , P , Leppig , K A , Lesca , G , Lopergolo , D , Lusk , L , Mackenzie , A , Mei , D , Møller , R S , Pereira , E M , Platzer , K , Quelin , C , Revah-Politi , A , Rheims , S , Rodríguez-Palmero , A , Rossi , A , Santorelli , F , Seinfeld , S , Sell , E , Stephenson , D , Szczaluba , K , Trinka , E , Umair , M , Van Esch , H , van Haelst , M M , Veenma , D C M , Weber , S , Weckhuysen , S , Zacher , P , Tümer , Z & Rubboli , G 2024 , ' Developmental epileptic encephalopathy in DLG4 -related synaptopathy ' , Epilepsia , vol. 65 , no. 4 , pp. 1029-1045 .
Academic Journal
Kalm, Tassja; Schob, Claudia; Voeller, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Kloeckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E. H.; van Jaarsveld, Richard H.; Oegema, Renske; van Gassen, Koen L. I.; Holwerda, Sjoerd J. B.; Barakat, Tahsin Stefan; Bouman, Arjan; Slegtenhorst, Marjon van; Alvarez, Sara; Fernandez-Jaen, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y.; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylene; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K.; Orenstein, Naama; Bernard, Genevieve; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortum, Fanny; Kubisch, Christian; Bahring, Robert; Kindler, Stefan
Academic Journal
Salima El Chehadeh; Kyung Ah Han; Dongwook Kim; Gyubin Jang; Somayeh Bakhtiari; Dongseok Lim; Hee Young Kim; Jinhu Kim; Hyeonho Kim; Julia Wynn; Wendy K. Chung; Giuseppina Vitiello; Ioana Cutcutache; Matthew Page; Jozef Gecz; Kelly Harper; Ah-reum Han; Ho Min Kim; Marja Wessels; Allan Bayat; Alberto Fernández Jaén; Angelo Selicorni; Silvia Maitz; Arjan P. M. de Brouwer; Anneke Vulto-van Silfhout; Martin Armstrong; Joseph Symonds; Sébastien Küry; Bertrand Isidor; Benjamin Cogné; Mathilde Nizon; Claire Feger; Jean Muller; Erin Torti; Dorothy K. Grange; Marjolaine Willems; Michael C. Kruer; Jaewon Ko; Amélie Piton; Ji Won Um
Nature Communications, Vol 13, Iss 1, Pp 1-19 (2022)
Academic Journal
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P.Y. Billie; Weksberg, Rosanna
In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884
Academic Journal
Ribeiro-Constante, Juliana; Tristan-Noguero, Alba; Martinez Calvo, Fernando Francisco; Ibanez-Mico, Salvador; Pena Segura, Jose Luis; Ramos-Fernandez, Jose Miguel; Moyano Chicano, Maria del Carmen; Camino Leon, Rafael; Soto Insuga, Victor; Gonzalez Alguacil, Elena; Valera Davila, Carlos; Fernandez-Jaen, Alberto; Plans, Laura; Camacho, Ana; Visa-Rene, Nuria; Martin-Tamayo Blazquez, Maria del Pilar; Paredes-Carmona, Fernando; Marti-Carrera, Itxaso; Hernandez-Fabian, Aranzazu; Tomas Davi, Meritxell; Sanchez, Merce Casadesus; Herraiz, Laura Cuesta; Pita, Patricia Fuentes; Gonzalez, Teresa Bermejo; O'Callaghan, Mar; Iglesias Santa Polonia, Federico Felipe; Cazorla, Maria Rosario; Ferrando Lucas, Maria Teresa; Gonzalez-Meneses, Antonio; Sala-Coromina, Julia; Macaya, Alfons; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Ma; Valera Parraga, Francisca; Campistol Plana, Jaume; Serrano, Mercedes; Alonso, Xenia; Del Castillo-Berges, Diego; Schwartz-Palleja, Marc; Illescas, Sofia; Ramirez Camacho, Alia; Sans Capdevila, Oscar; Garcia-Cazorla, Angeles; Bayes, Alex; Alonso-Colmenero, Itziar
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