학술논문
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'학술논문'
에서 검색결과 1,204건 | 목록
1~20
Academic Journal
Milosavljevic, Aleksander; Lanza, Denise G.; Mao, Dongxue; Heaney, Jason D.; Rogers, Jeffrey; Posey, Jennifer E.; Rosenfeld, Jill A.; Burrage, Lindsay C.; Roth, Matthew; Darshoori, Ramin Zahedi; Nagamani, Sandesh C.S.; Kim, Seon-Young; Ramamurthy, Uma; Ramanathan, Vivek; Liu, Zhandong; Bereshneh, Ali H. ; Wilson, Kirkland A. ; Pan, Xueyang ; Hannan, Shabab B. ; Cooper, Megan A. ; Diaz, Jullianne ; Leon, Eyby ; Moses, Tiana M. ; Azamian, Mahshid S. ; Scott, Daryl A. ; Billie Au, Ping Yee ; Appendino, Juan Pablo ; Scheffer, Ingrid E. ; Kaspi, Antony ; Bahlo, Melanie ; Hildebrand, Michael S. ; Morgan, Angela T. ; Ekure, Ekanem ; Shulman, Joshua M. ; Hildebrandt, Friedhelm ; Kruszka, Paul ; Vilain, Eric ; Yamamoto, Shinya ; Kanca, Oguz ; Berger, Seth ; Bellen, Hugo J.
In Genetics in Medicine April 2026 28(4)
Academic Journal
Afawi, Zaid; Amrom, Dina; Andermann, Eva; Bautista, Jocelyn F.; Bellows, Susannah T.; Bluvstein, Judith; Cascino, Gregory D.; Chung, Seo-Kyung; Cossette, Patrick; Curtis, Sarah W.; Delanty, Norman; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P.; Freyer, Catharine; Gravel, Micheline; Harris, Rebekah V.; Heinzen, Erin L.; Henry, Olivia J.; Kirsch, Heidi E.; Knowlton, Robert C.; Kossoff, Eric H.; Loeb, Rebecca; Lowenstein, Daniel H.; Marson, Anthony G.; Mefford, Heather C.; Motika, Paul V.; O'Brien, Terence J.; Ottman, Ruth; Paolicchi, Juliann M.; Petrovski, Slave; Pickrell, William O.; Rees, Mark I.; Sadleir, Lynette G.; Shih, Jerry J.; Singh, Rani K.; Smith, Michael C.; Smith, Philip E.M.; Thomas, Rhys H.; Weisenberg, Judith; Widdess-Walsh, Peter; Winawer, Melodie R.; Oliver, Karen L. ; Scheffer, Ingrid E. ; Ellis, Colin A. ; Grinton, Bronwyn E. ; Berkovic, Samuel F. ; Bahlo, Melanie
In eBioMedicine November 2024 109
Academic Journal
Farashi, Samaneh ; Bonelli, Roberto ; Jackson, Victoria E. ; Ansell, Brendan R.E. ; Guymer, Robyn H. ; Bahlo, Melanie
In Ophthalmology Science September-October 2024 4(5)
Academic Journal
Braat, Sabine ; Fielding, Katherine L ; Han, Jiru ; Jackson, Victoria E ; Zaloumis, Sophie ; Xu, Jessica Xu Hui ; Moir-Meyer, Gemma ; Blaauwendraad, Sophia M ; Jaddoe, Vincent W V ; Gaillard, Romy ; Parkin, Patricia C ; Borkhoff, Cornelia M ; Keown-Stoneman, Charles D G ; Birken, Catherine S ; Maguire, Jonathon L ; Bahlo, Melanie ; Davidson, Eliza M ; Pasricha, Sant-Rayn
In The Lancet Haematology April 2024 11(4):e253-e264
Academic Journal
Méreaux, Jean-Loup ; Davoine, Claire-Sophie ; Pellerin, David ; Coarelli, Giulia ; Coutelier, Marie ; Ewenczyk, Claire ; Monin, Marie-Lorraine ; Anheim, Mathieu ; Le Ber, Isabelle ; Thobois, Stéphane ; Gobert, Florent ; Guillot-Noël, Léna ; Forlani, Sylvie ; Jornea, Ludmila ; Heinzmann, Anna ; Sangare, Aude ; Gaymard, Bertrand ; Guyant-Maréchal, Lucie ; Charles, Perrine ; Marelli, Cecilia ; Honnorat, Jérôme ; Degos, Bertrand ; Tison, François ; Sangla, Sophie ; Simonetta-Moreau, Marion ; Salachas, François ; Tchikviladzé, Maya ; Castelnovo, Giovanni ; Mochel, Fanny ; Klebe, Stephan ; Castrioto, Anna ; Fenu, Silvia ; Méneret, Aurélie ; Bourdain, Frédéric ; Wandzel, Marion ; Roth, Virginie ; Bonnet, Céline ; Riant, Florence ; Stevanin, Giovanni ; Noël, Sandrine ; Fauret-Amsellem, Anne-Laure ; Bahlo, Melanie ; Lockhart, Paul J. ; Brais, Bernard ; Renaud, Mathilde ; Brice, Alexis ; Durr, Alexandra
In eBioMedicine January 2024 99
Academic Journal
Bennett, Cavan ; Jackson, Victoria E. ; Pettikiriarachchi, Anne ; Hayman, Thomas ; Schaeper, Ute ; Moir-Meyer, Gemma ; Fielding, Katherine ; Ataide, Ricardo ; Clucas, Danielle ; Baldi, Andrew ; Garnham, Alexandra L. ; Li-Wai-Suen, Connie S. N. ; Loughran, Stephen J. ; Baxter, E. Joanna ; Green, Anthony R. ; Alexander, Warren S. ; Bahlo, Melanie ; Burbury, Kate ; Ng, Ashley P. ; Pasricha, Sant-Rayn
In Blood 29 June 2023 141(26):3199-3214
Academic Journal
Green, Courtney R. ; Bonelli, Roberto ; Ansell, Brendan R.E. ; Tzaridis, Simone ; Handzlik, Michal K. ; McGregor, Grace H. ; Hart, Barbara ; Trombley, Jennifer ; Reilly, Mary M. ; Bernstein, Paul S. ; Egan, Catherine ; Fruttiger, Marcus ; Wallace, Martina ; Bahlo, Melanie ; Friedlander, Martin ; Metallo, Christian M. ; Gantner, Marin L.
In Molecular Metabolism June 2023 72
Academic Journal
Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J. ; Davies, Kayli C. ; Snell, Penny ; Fearnley, Liam G. ; Scott, Liam ; Thomsen, Mirja ; Gillies, Greta ; Pope, Kate ; Bennett, Mark F. ; Munro, Jacob E. ; Ngo, Kathie J. ; Chen, Luke ; Wallis, Mathew J. ; Butler, Ernest G. ; Kumar, Kishore R. ; Wu, Kathy HC. ; Tomlinson, Susan E. ; Tisch, Stephen ; Malhotra, Abhishek ; Lee-Archer, Matthew ; Dolzhenko, Egor ; Eberle, Michael A. ; Roberts, Leslie J. ; Fogel, Brent L. ; Brüggemann, Norbert ; Lohmann, Katja ; Delatycki, Martin B. ; Bahlo, Melanie ; Lockhart, Paul J.
In The American Journal of Human Genetics 5 January 2023 110(1):105-119
Academic Journal
Oliver, Karen L. ; Ellis, Colin A. ; Scheffer, Ingrid E. ; Ganesan, Shiva ; Leu, Costin ; Sadleir, Lynette G. ; Heinzen, Erin L. ; Mefford, Heather C. ; Bass, Andrew J. ; Curtis, Sarah W. ; Harris, Rebekah V. ; Whiteman, David C. ; Helbig, Ingo ; Ottman, Ruth ; Epstein, Michael P. ; Bahlo, Melanie ; Berkovic, Samuel F.
In eBioMedicine July 2022 81
Academic Journal
Stephenson, Sarah E.M. ; Costain, Gregory ; Blok, Laura E.R. ; Silk, Michael A. ; Nguyen, Thanh Binh ; Dong, Xiaomin ; Alhuzaimi, Dana E. ; Dowling, James J. ; Walker, Susan ; Amburgey, Kimberly ; Hayeems, Robin Z. ; Rodan, Lance H. ; Schwartz, Marc A. ; Picker, Jonathan ; Lynch, Sally A. ; Gupta, Aditi ; Rasmussen, Kristen J. ; Schimmenti, Lisa A. ; Klee, Eric W. ; Niu, Zhiyv ; Agre, Katherine E. ; Chilton, Ilana ; Chung, Wendy K. ; Revah-Politi, Anya ; Au, P.Y. Billie ; Griffith, Christopher ; Racobaldo, Melissa ; Raas-Rothschild, Annick ; Ben Zeev, Bruria ; Barel, Ortal ; Moutton, Sebastien ; Morice-Picard, Fanny ; Carmignac, Virginie ; Cornaton, Jenny ; Marle, Nathalie ; Devinsky, Orrin ; Stimach, Chandler ; Wechsler, Stephanie Burns ; Hainline, Bryan E. ; Sapp, Katie ; Willems, Marjolaine ; Bruel, Ange-line ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Roscioli, Tony ; Sachdev, Rani ; Temple, Suzanna E.L. ; Zhu, Ying ; Baker, Joshua J. ; Scheffer, Ingrid E. ; Gardiner, Fiona J. ; Schneider, Amy L. ; Muir, Alison M. ; Mefford, Heather C. ; Crunk, Amy ; Heise, Elizabeth M. ; Millan, Francisca ; Monaghan, Kristin G. ; Person, Richard ; Rhodes, Lindsay ; Richards, Sarah ; Wentzensen, Ingrid M. ; Cogné, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Vincent, Marie ; Besnard, Thomas ; Piton, Amelie ; Marcelis, Carlo ; Kato, Kohji ; Koyama, Norihisa ; Ogi, Tomoo ; Goh, Elaine Suk-Ying ; Richmond, Christopher ; Amor, David J. ; Boyce, Jessica O. ; Morgan, Angela T. ; Hildebrand, Michael S. ; Kaspi, Antony ; Bahlo, Melanie ; Friðriksdóttir, Rún ; Katrínardóttir, Hildigunnur ; Sulem, Patrick ; Stefánsson, Kári ; Björnsson, Hans Tómas ; Mandelstam, Simone ; Morleo, Manuela ; Mariani, Milena ; Scala, Marcello ; Accogli, Andrea ; Torella, Annalaura ; Capra, Valeria ; Wallis, Mathew ; Jansen, Sandra ; Waisfisz, Quinten ; de Haan, Hugoline ; Sadedin, Simon ; Lim, Sze Chern ; White, Susan M. ; Ascher, David B. ; Schenck, Annette ; Lockhart, Paul J. ; Christodoulou, John ; Tan, Tiong Yang
In The American Journal of Human Genetics 7 April 2022 109(4):601-617
Academic Journal
Farashi, Samaneh ; Ansell, Brendan R.E. ; Wu, Zhichao ; Abbott, Carla J. ; Pébay, Alice ; Fletcher, Erica L. ; Guymer, Robyn H. ; Bahlo, Melanie
In Trends in Genetics April 2022 38(4):312-316
Academic Journal
Thomas, Eric D. ; Timms, Andrew E. ; Giles, Sarah ; Harkins-Perry, Sarah ; Lyu, Pin ; Hoang, Thanh ; Qian, Jiang ; Jackson, Victoria E. ; Bahlo, Melanie ; Blackshaw, Seth ; Friedlander, Martin ; Eade, Kevin ; Cherry, Timothy J.
In Developmental Cell 28 March 2022 57(6):820-836
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
Tian, Luyi ; Tomei, Sara ; Schreuder, Jaring ; Weber, Tom S. ; Amann-Zalcenstein, Daniela ; Lin, Dawn S. ; Tran, Jessica ; Audiger, Cindy ; Chu, Mathew ; Jarratt, Andrew ; Willson, Tracy ; Hilton, Adrienne ; Pang, Ee Shan ; Patton, Timothy ; Kelly, Madison ; Su, Shian ; Gouil, Quentin ; Diakumis, Peter ; Bahlo, Melanie ; Sargeant, Toby ; Kats, Lev M. ; Hodgkin, Philip D. ; O’Keeffe, Meredith ; Ng, Ashley P. ; Ritchie, Matthew E. ; Naik, Shalin H.
In Immunity 8 June 2021 54(6):1338-1351
Academic Journal
Courage, Carolina ; Oliver, Karen L. ; Park, Eon Joo ; Cameron, Jillian M. ; Grabińska, Kariona A. ; Muona, Mikko ; Canafoglia, Laura ; Gambardella, Antonio ; Said, Edith ; Afawi, Zaid ; Baykan, Betul ; Brandt, Christian ; di Bonaventura, Carlo ; Chew, Hui Bein ; Criscuolo, Chiara ; Dibbens, Leanne M. ; Castellotti, Barbara ; Riguzzi, Patrizia ; Labate, Angelo ; Filla, Alessandro ; Giallonardo, Anna T. ; Berecki, Geza ; Jackson, Christopher B. ; Joensuu, Tarja ; Damiano, John A. ; Kivity, Sara ; Korczyn, Amos ; Palotie, Aarno ; Striano, Pasquale ; Uccellini, Davide ; Giuliano, Loretta ; Andermann, Eva ; Scheffer, Ingrid E. ; Michelucci, Roberto ; Bahlo, Melanie ; Franceschetti, Silvana ; Sessa, William C. ; Berkovic, Samuel F. ; Lehesjoki, Anna-Elina
In The American Journal of Human Genetics 1 April 2021 108(4):722-738
Academic Journal
Myers, Kenneth A. ; Bennett, Mark F. ; Grinton, Bronwyn E. ; Dabscheck, Gabriel ; Chan, Eunice K. ; Bello-Espinosa, Luis E. ; Sadleir, Lynette G. ; D’Alfonso, Sabrina ; Schneider, Amy L. ; Damiano, John A. ; Hildebrand, Michael S. ; Bahlo, Melanie ; Berkovic, Samuel F. ; Buchhalter, Jeffrey ; Scheffer, Ingrid E.
In Epilepsy Research February 2021 170
Academic Journal
Eratne, Dhamidhu ; Schneider, Amy ; Lynch, Ella ; Martyn, Melissa ; Velakoulis, Dennis ; Fahey, Michael ; Kwan, Patrick ; Leventer, Richard ; Rafehi, Haloom ; Chong, Belinda ; Stark, Zornitza ; Lunke, Sebastian ; Phelan, Dean G. ; O'Keefe, Melanie ; Siemering, Kirby ; West, Kirsty ; Sexton, Adrienne ; Jarmolowicz, Anna ; Taylor, Jessica A. ; Schultz, Joshua ; Purvis, Rebecca ; Uebergang, Eloise ; Chalinor, Heather ; Creighton, Belinda ; Gelfand, Nikki ; Saks, Tamar ; Prawer, Yael ; Smagarinsky, Yana ; Pan, Tianxin ; Goranitis, Ilias ; Ademi, Zanfina ; Gaff, Clara ; Huq, Aamira ; Walsh, Maie ; James, Paul A. ; Krzesinski, Emma I. ; Wallis, Mathew ; Stutterd, Chloe A. ; Bahlo, Melanie ; Delatycki, Martin B. ; Berkovic, Samuel F.
In Journal of the Neurological Sciences 15 January 2021 420
Academic Journal
Academic Journal
Johnson, Jennifer L. ; Stoica, Loredana ; Liu, Yuwei ; Zhu, Ping Jun ; Bhattacharya, Abhisek ; Buffington, Shelly A. ; Huq, Redwan ; Eissa, N. Tony ; Larsson, Ola ; Porse, Bo T. ; Domingo, Deepti ; Nawaz, Urwah ; Carroll, Renee ; Jolly, Lachlan ; Scerri, Tom S. ; Kim, Hyung-Goo ; Brignell, Amanda ; Coleman, Matthew J. ; Braden, Ruth ; Kini, Usha ; Jackson, Victoria ; Baxter, Anne ; Bahlo, Melanie ; Scheffer, Ingrid E. ; Amor, David J. ; Hildebrand, Michael S. ; Bonnen, Penelope E. ; Beeton, Christine ; Gecz, Jozef ; Morgan, Angela T. ; Costa-Mattioli, Mauro
In Neuron 20 November 2019 104(4):665-679
Academic Journal
Khan, Kamal ; Zech, Michael ; Morgan, Angela T. ; Amor, David J. ; Skorvanek, Matej ; Khan, Tahir N. ; Hildebrand, Michael S. ; Jackson, Victoria E. ; Scerri, Thomas S. ; Coleman, Matthew ; Rigbye, Kristin A. ; Scheffer, Ingrid E. ; Bahlo, Melanie ; Wagner, Matias ; Lam, Daniel D. ; Berutti, Riccardo ; Havránková, Petra ; Fečíková, Anna ; Strom, Tim M. ; Han, Vladimir ; Dosekova, Petra ; Gdovinova, Zuzana ; Laccone, Franco ; Jameel, Muhammad ; Mooney, Marie R. ; Baig, Shahid M. ; Jech, Robert ; Davis, Erica E. ; Katsanis, Nicholas ; Winkelmann, Juliane
In Genetics in Medicine November 2019 21(11):2532-2542
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