학술논문
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'학술논문'
에서 검색결과 87건 | 목록
1~20
Academic Journal
Tumienė B; del Toro Riera M; Grikiniene J; Samaitiene-Aleknienė R; Praninskienė R; Monavari AA; Sykut-Cegielska J
Journal of Multidisciplinary Healthcare, Vol 15, Pp 553-566 (2022)
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
In The Lancet Regional Health - Europe February 2024 37
Academic Journal
Chen, Faye H. ; Hartman, Adam L. ; Letinturier, Mary Catherine V. ; Antoniadou, Victoria ; Baynam, Gareth ; Bloom, Lara ; Crimi, Marco ; Della Rocca, Maria G. ; Didato, Giuseppe ; Houge, Sofia Douzgou ; Jonker, Anneliene ; Kawome, Martina ; Mueller, Friederike ; O'Brien, James ; Puri, Ratna Dua ; Ryan, Nuala ; Thong, Meow-Keong ; Tumienė, Birutė ; Parisi, Melissa A.
In European Journal of Medical Genetics December 2024 72
Academic Journal
Adams, David R. ; van Karnebeek, Clara D.M. ; Agulló, Sergi Beltran ; Faùndes, Víctor ; Jamuar, Saumya Shekhar ; Lynch, Sally Ann ; Pintos-Morell, Guillem ; Puri, Ratna Dua ; Shai, Ruty ; Steward, Charles A. ; Tumiene, Biruté ; Verloes, Alain
In European Journal of Medical Genetics August 2024 70
Academic Journal
Baynam, Gareth ; Hartman, Adam L ; Letinturier, Mary Catherine V ; Bolz-Johnson, Matt ; Carrion, Prescilla ; Grady, Alice Chen ; Dong, Xinran ; Dooms, Marc ; Dreyer, Lauren ; Graessner, Holm ; Granados, Alicia ; Groza, Tudor ; Houwink, Elisa ; Jamuar, Saumya Shekhar ; Vasquez-Loarte, Tania ; Tumiene, Biruté ; Wiafe, Samuel Agyei ; Bjornson-Pennell, Heidi ; Groft, Stephen
In The Lancet Global Health July 2024 12(7):e1192-e1199
Academic Journal
Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; 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; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, 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; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; vanBaalen, Andreas; vonSpiczak, 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; 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; Korinthenberg, Rudolf; Brockmann, Knut; Dennig, Dieter; Madeleyn, Rene; Kälviäinen, Reetta; Auvinen, Pia; Saarela, Anni; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Rees, Mark I; Chung, Seo-Kyung; Pickrell, William O; Powell, Robert; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R; Auce, Pauls; Sills, Graeme J; Baum, Larry W; Sham, Pak C; Cherny, Stacey S; Lui, Colin H T; Barišić, Nina; Delanty, Norman; Doherty, Colin P; Shukralla, Arif; McCormack, Mark; El-Naggar, Hany; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Zara, Federico; Iacomino, Michele; Madia, Francesca; Vari, Maria Stella; Mancardi, Maria Margherita; Salpietro, Vincenzo; Bisulli, Francesca; Tinuper, Paolo; Licchetta, Laura; Pippucci, Tommaso; Stipa, Carlotta; Minardi, Raffaella; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Marini, Carla; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Tumiene, Birute; Sadleir, Lynette G; King, Chontelle; Mountier, Emily; Caglayan, Hande S; Arslan, Mutluay; Yapıcı, Zuhal; Yis, Uluc; Topaloglu, Pınar; Kara, Bulent; Turkdogan, Dilsad; Gundogdu-Eken, Aslı; Bebek, Nerses; Uğur-İşeri, Sibel; Baykan, Betül; Salman, Barış; Haryanyan, Garen; Yücesan, Emrah; Kesim, Yeşim; Özkara, Çiğdem; Poduri, Annapurna; Shiedley, Beth R; Shain, Catherine; 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; Khankhanian, Pouya; Helbig, Katherine L; Ellis, Colin A; Spalletta, Gianfranco; Piras, Fabrizio; Piras, Federica; Gili, Tommaso; Ciullo, Valentina; Reif, Andreas; McQuillin, Andrew; Bass, Nick; McIntosh, Andrew; Blackwood, Douglas; Johnstone, Mandy; Palotie, Aarno; 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; 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; 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; Koko, Mahmoud ; Sander, Thomas ; Bobbili, Dheeraj Reddy ; Nothnagel, Michael
In eBioMedicine October 2021 72
Academic Journal
Motelow, Joshua E.; Povysil, Gundula; Dhindsa, Ryan S.; Stanley, Kate E.; Allen, Andrew S.; 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.; 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.; Leu, Costin; Leech, Stephanie L.; O’Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Ali, Quratulain Zulfiqar; Sadoway, Tara R.; Krestel, Heinz; Schaller, André; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; Christou, Yiolanda; 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 M.; Kunz, Wolfram S.; Zsurka, Gábor; Surges, Rainer; Baumgartner, Tobias; 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; Baker, Mark D.; Fonferko-Shadrach, Beata; Lawthom, Charlotte; Anderson, Joseph; Schneider, Natascha; Balestrini, Simona; Zagaglia, Sara; Braatz, Vera; Johnson, Michael R.; Auce, Pauls; Sills, Graeme J.; Baum, Larry W.; Sham, Pak C.; Cherny, Stacey S.; Lui, Colin H.T.; Delanty, Norman; Doherty, Colin P.; Shukralla, Arif; El-Naggar, Hany; Widdess-Walsh, Peter; Barišić, Nina; Canafoglia, Laura; Franceschetti, Silvana; Castellotti, Barbara; Granata, Tiziana; Ragona, Francesca; Zara, Federico; Iacomino, Michele; Riva, Antonella; Madia, Francesca; Vari, Maria Stella; Salpietro, Vincenzo; Scala, Marcello; Mancardi, Maria Margherita; Nobili, Lino; Amadori, Elisabetta; Giacomini, Thea; Bisulli, Francesca; Pippucci, Tommaso; Licchetta, Laura; Minardi, Raffaella; Tinuper, Paolo; Muccioli, Lorenzo; Mostacci, Barbara; Gambardella, Antonio; Labate, Angelo; Annesi, Grazia; Manna, Lorella; Gagliardi, Monica; Parrini, Elena; Mei, Davide; Vetro, Annalisa; Bianchini, Claudia; Montomoli, Martino; Doccini, Viola; Barba, Carmen; Hirose, Shinichi; Ishii, Atsushi; Suzuki, Toshimitsu; Inoue, Yushi; Yamakawa, Kazuhiro; Beydoun, Ahmad; Nasreddine, Wassim; Khoueiry Zgheib, Nathalie; Tumiene, Birute; Utkus, Algirdas; Sadleir, Lynette G.; King, Chontelle; Caglayan, S. 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, YeşÇiğdem; 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; Berkovic, Samuel F.; Lerche, Holger; Lowenstein, Daniel H.; Goldstein, David B.
In The American Journal of Human Genetics 3 June 2021 108(6):965-982
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Academic Journal
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In: Clinical Chemistry and Laboratory Medicine . (Clinical Chemistry and Laboratory Medicine, 1 January 2023, 61(2):224-233)
Academic Journal
Samaitienė, R.; Tumienė, B.; Palionis, D.; Grikinienė, J.; Valevičienė, N.; Songailienė, J.; Petroška, D.; Kučinskas, V.
Academic Journal
Tumiene, B.; Utkus, A.; Peters, H.; Melegh, B.; Peterlin, B.; Fatkulina, N.; Pfliegler, G.; Graessner, H.; Hermanns, S.; Scarpa, M.; Blay, J.-Y.; Ashton, S.; McKay, L.; Baynam, G.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
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[Author] Tumienė B
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