학술논문
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'학술논문'
에서 검색결과 950건 | 목록
1~20
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Chourasia, Nitish, MD; Vaidya, Rohan, DO; Sengupta, Soham, PhD; Mefford, Heather C., MD, PhD; Wheless, James, MD
Pediatric Neurology. 161:101-107
Academic Journal
Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D’Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martín-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Emam Mousavi, Fatemeh; Nelson, Zoe; Gutiérrez-Solana, Luis González; Macnamara, Ellen; Michaud, Vincent; O’Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; L.Stoddard, Jennifer; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 45(1)
Academic Journal
Woodward, Beth L.; Lahiri, Sudipta; Chauhan, Anoop S.; Garcia, Marcos Rios; Goodley, Lucy E.; Clarke, Thomas L.; Pal, Mohinder; Agathanggelou, Angelo; Jhujh, Satpal S.; Ganesh, Anil N.; Hollins, Fay M.; Deforie, Valentina Galassi; Maroofian, Reza; Efthymiou, Stephanie; Meinhardt, Andrea; Mathew, Christopher G.; Simpson, Michael A.; Mefford, Heather C.; Faqeih, Eissa A.; Rosenzweig, Sergio D.; Volpi, Stefano; Di Matteo, Gigliola; Cancrini, Caterina; Scardamaglia, Annarita; Shackley, Fiona; Davies, E. Graham; Ibrahim, Shahnaz; Arkwright, Peter D.; Zaki, Maha S.; Stankovic, Tatjana; Taylor, A. Malcolm R.; Mazur, Antonina J.; Di Donato, Nataliya; Houlden, Henry; Rothenberg, Eli; Stewart, Grant S.
Nature Communications. 16(1)
Academic Journal
Oliver, Karen L.; Scheffer, Ingrid E.; Ellis, Colin A.; Grinton, Bronwyn E.; Berkovic, Samuel F.; Bahlo, Melanie; 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.
eBioMedicine. 109
Academic Journal
Christy W. LaFlamme; Cassandra Rastin; Soham Sengupta; Helen E. Pennington; Sophie J. Russ-Hall; Amy L. Schneider; Emily S. Bonkowski; Edith P. Almanza Fuerte; Talia J. Allan; Miranda Perez-Galey Zalusky; Joy Goffena; Sophia B. Gibson; Denis M. Nyaga; Nico Lieffering; Malavika Hebbar; Emily V. Walker; Daniel Darnell; Scott R. Olsen; Pandurang Kolekar; Mohamed Nadhir Djekidel; Wojciech Rosikiewicz; Haley McConkey; Jennifer Kerkhof; Michael A. Levy; Raissa Relator; Dorit Lev; Tally Lerman-Sagie; Kristen L. Park; Marielle Alders; Gerarda Cappuccio; Nicolas Chatron; Leigh Demain; David Genevieve; Gaetan Lesca; Tony Roscioli; Damien Sanlaville; Matthew L. Tedder; Sachin Gupta; Elizabeth A. Jones; Monika Weisz-Hubshman; Shamika Ketkar; Hongzheng Dai; Kim C. Worley; Jill A. Rosenfeld; Hsiao-Tuan Chao; Undiagnosed Diseases Network; Geoffrey Neale; Gemma L. Carvill; University of Washington Center for Rare Disease Research; Zhaoming Wang; Samuel F. Berkovic; Lynette G. Sadleir; Danny E. Miller; Ingrid E. Scheffer; Bekim Sadikovic; Heather C. Mefford
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Academic Journal
Denis M. Nyaga; Michael S. Hildebrand; Guillem deValles‐Ibáñez; Ngaire F. Keenan; Zimeng Ye; Christy W. LaFlamme; Heather C. Mefford; Mark F. Bennett; Melanie Bahlo; Lynette G. Sadleir
Epilepsia Open, Vol 9, Iss 2, Pp 758-764 (2024)
Academic Journal
Marquez, Jonathan; Cech, Jennifer N.; Paschal, Cate R.; Dingmann, Bri; Scott, Anna I.; Thies, Jenny M.; Mills, Maria R.; Albert, Catherine M.; Beck, Anita E.; Beckman, Erika; Bonkowski, Emily S.; Earl, Dawn L.; Lam, Christina T.; Mefford, Heather C.; Merritt, J. Lawrence, II; Nelson, Zoe; Ohlsen, Timothy J.D.; Taylor, Mallory R.; Perlman, Seth J.; Rudzinski, Erin R.; Sikes, Megan C.; Waligorski, Natalie; Wenger, Tara L.; Adam, Margaret P.; Mirzaa, Ghayda M.; Bennett, James T.; Glass, Ian A.; Sternen, Darci L.; Miller, Danny E.
Genetics in Medicine Open. 2
Academic Journal
Freed, Amanda S., MD; Clowes Candadai, Sarah V., MS, LCGC; Sikes, Megan C., MS, LCGC; Thies, Jenny, MS, LCGC; Byers, Heather M., MD; Dines, Jennifer N., MD; Ndugga-Kabuye, Mesaki Kenneth, MD; Smith, Mallory B., MD; Fogus, Katie, MA; Mefford, Heather C., MD, PhD; Lam, Christina, MD; Adam, Margaret P., MD; Sun, Angela, MD; McGuire, John K., MD; DiGeronimo, Robert, MD; Dipple, Katrina M., MD, PhD; Deutsch, Gail H., MD; Billimoria, Zeenia C., MD; Bennett, James T., MD, PhD
The Journal of Pediatrics. 226:202-212
Academic Journal
Nature Reviews Disease Primers. 10(1)
Academic Journal
Chiu, Annie T. G.; Bennett, Mark F.; Thiyagarajah, Harshini; Schneider, Amy L.; Macdonald, Sian M. W.; Witkowski, Tom; Almanza Fuerte, Edith P.; Allan, Talia J.; Lieffering, Nico; Robinson, Blake; LaFlamme, Christy W.; Sengupta, Soham; Chung, Clara W. T.; Cardamone, Michael; Gray, Cassandra; Perucca, Piero; Berkovic, Samuel F.; Mefford, Heather C.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Australian Undiagnosed Dis Network UDN Aus
Academic Journal
Harriet Dashnow; Brent S. Pedersen; Laurel Hiatt; Joe Brown; Sarah J. Beecroft; Gianina Ravenscroft; Amy J. LaCroix; Phillipa Lamont; Richard H. Roxburgh; Miriam J. Rodrigues; Mark Davis; Heather C. Mefford; Nigel G. Laing; Aaron R. Quinlan
Genome Biology, Vol 23, Iss 1, Pp 1-20 (2022)
Academic Journal
Nature Reviews Disease Primers. 10(1)
Academic Journal
Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H.; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G. Christoph; Kluger, Gerhard; Mefford, Heather C.; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C.; Taglialatela, Maurizio; Weckhuysen, Sarah
eBioMedicine. 81
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.
eBioMedicine. 81
Academic Journal
Bingcheng Jiang; Cameron Murray; Bonnie L. Cole; J. N. Mark Glover; Gordon K. Chan; Jean Deschenes; Rajam S. Mani; Sudip Subedi; John D. Nerva; Anthony C. Wang; Christina M. Lockwood; Heather C. Mefford; Sarah E. S. Leary; Jeffery G. Ojemann; Michael Weinfeld; Chibawanye I. Ene
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Academic Journal
Current Opinion in Genetics & Development. 65:98-102
Academic Journal
Brooker, Sarah M.; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A.; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Boelsterli, Bigna K.; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A.; Ezell, Kimberly M.; Foucard, Cendrine; Frucht, Steven J.; Garcia, Maria C.; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suner, Damia; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U.; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C.; Mendelsohn, Bryce A.; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S.; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M.; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E.; Serari, Naoual; Stahl, Christine M.; Kung, Ann Stembridge; Tarongi Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F.; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J.; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S. C.; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolo E.
Academic Journal
Sadleir, Lynette G.; Kolc, Kristy L.; King, Chontelle; Mefford, Heather C.; Dale, Russell C.; Gecz, Jozef; Scheffer, Ingrid E.
European Journal of Paediatric Neurology. 24:142-147
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