학술논문
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'학술논문'
에서 검색결과 324건 | 목록
1~20
Academic Journal
Nguyen, Brian ; Gillentine, Madelyn A. ; Myers, Candace T. ; Bhatia, Sofia ; Narayanan, Jaya ; Rogge, Larissa ; Emery, Louisa ; Perkins, Jonathan ; Eng, Whitney ; Wandler, Anica ; Paschal, Cate R. ; Bennett, James T. ; Nelson, Nya D.
In Modern Pathology March 2026 39(3)
Academic Journal
Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena ; Vlaskamp, Danique R.M. ; Bertelsen, Birgitte ; Mandelstam, Simone ; de Lange, Iris ; Zhang, Jing ; Myers, Candace T. ; Fenger, Christina ; Afawi, Zaid ; Almanza Fuerte, Edith P. ; Andrade, Danielle M. ; Balcik, Yunus ; Ben Zeev, Bruria ; Bennett, Mark F. ; Berkovic, Samuel F. ; Isidor, Bertrand ; Bouman, Arjan ; Brilstra, Eva ; Busk, Øyvind L. ; Cairns, Anita ; Caumes, Roseline ; Chatron, Nicolas ; Dale, Russell C. ; de Geus, Christa ; Edery, Patrick ; Gill, Deepak ; Granild-Jensen, Jacob Bie ; Gunderson, Lauren ; Gunning, Boudewijn ; Heimer, Gali ; Helle, Johan R. ; Hildebrand, Michael S. ; Hollingsworth, Georgie ; Kharytonov, Volodymyr ; Klee, Eric W. ; Koeleman, Bobby P.C. ; Koolen, David A. ; Korff, Christian ; Küry, Sébastien ; Lesca, Gaetan ; Lev, Dorit ; Leventer, Richard J. ; Mackay, Mark T. ; Macke, Erica L. ; McEntagart, Meriel ; Mohammad, Shekeeb S. ; Monin, Pauline ; Montomoli, Martino ; Morava, Eva ; Moutton, Sebastien ; Muir, Alison M. ; Parrini, Elena ; Procopis, Peter ; Ranza, Emmanuelle ; Reed, Laura ; Reif, Philipp S. ; Rosenow, Felix ; Rossi, Massimiliano ; Sadleir, Lynette G. ; Sadoway, Tara ; Schelhaas, Helenius J. ; Schneider, Amy L. ; Shah, Krati ; Shalev, Ruth ; Sisodiya, Sanjay M. ; Smol, Thomas ; Stumpel, Connie T.R.M. ; Stuurman, Kyra ; Symonds, Joseph D. ; Mau-Them, Frederic Tran ; Verbeek, Nienke ; Verhoeven, Judith S. ; Wallace, Geoffrey ; Yosovich, Keren ; Zarate, Yuri A. ; Zerem, Ayelet ; Zuberi, Sameer M. ; Guerrini, Renzo ; Mefford, Heather C. ; Patel, Chirag ; Zhang, Yue-Hua ; Møller, Rikke S. ; Scheffer, Ingrid E.
In Genetics in Medicine February 2021 23(2):363-373
Academic Journal
Yi, Fan; Poskanzer, Sheri A; Myers, Candace T; Thies, Jenny; Collins, Christopher J; Dayuha, Remwilyn; Duong, Phi; Houwen, Roderick; Hahn, Si Houn
JIMD Rep
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
JIMD Reports, Vol 54, Iss 1, Pp 32-36 (2020)
Academic Journal
Zenner, Kaitlyn; Jensen, Dana M.; Dmyterko, Victoria; Shivaram, Giridhar M.; Myers, Candace T.; Paschal, Cate R.; Rudzinski, Erin R.; Pham, Minh-Hang M.; Cheng, V. Chi; Manning, Scott C.; Bly, Randall A.; Ganti, Sheila; Perkins, Jonathan A.; Bennett, James T.
Human Genetics and Genomics Advances. 3(2)
Academic Journal
Myers, Candace T.; Kumar, Runjun D.; Pilgram, Lisa; Bonomi, Luca; Thomas, Mara; Griffith, Obi L.; Fullerton, Stephanie M.; Gibbs, Richard A.
Academic Journal
Di Donato, Nataliya ; Timms, Andrew E. ; Aldinger, Kimberly A. ; Mirzaa, Ghayda M. ; Bennett, James T. ; Collins, Sarah ; Olds, Carissa ; Mei, Davide ; Chiari, Sara ; Carvill, Gemma ; Myers, Candace T. ; Rivière, Jean-Baptiste ; Zaki, Maha S. ; Gleeson, Joseph G. ; Rump, Andreas ; Conti, Valerio ; Parrini, Elena ; Ross, M.Elizabeth ; Ledbetter, David H. ; Guerrini, Renzo ; Dobyns, William B.
In Genetics in Medicine November 2018 20(11):1354-1364
Academic Journal
Tunc-Ozdemir, Meral; Tang, Chong; Ishka, Maryam Rahmati; Brown, Elizabeth; Groves, Norman R.; Myers, Candace T.; Rato, Claudia; Poulsen, Lisbeth R.; McDowell, Stephen; Miller, Gad; Mittler, Ron; Harper, Jeffrey F.
Plant Physiology, 2013 Feb 01. 161(2), 1010-1020.
Academic Journal
Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John; Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Uysal, Betül ; Schwarz, Niklas ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Kruer, Michael C. ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Corbett, Mark A. ; MacLennan, Alastair H. ; Gecz, Jozef ; Biskup, Saskia ; Goldmann, Eva ; Rodan, Lance H. ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Casas, Kari ; El Achkar, Christelle M. ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Helbig, Ingo ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.
In The American Journal of Human Genetics 1 November 2018 103(5):666-678
Academic Journal
LaCroix, Amy J. ; Stabley, Deborah ; Sahraoui, Rebecca ; Adam, Margaret P. ; Mehaffey, Michele ; Kernan, Kelly ; Myers, Candace T. ; Fagerstrom, Carrie ; Anadiotis, George ; Akkari, Yassmine M. ; Robbins, Katherine M. ; Gripp, Karen W. ; Baratela, Wagner A.R. ; Bober, Michael B. ; Duker, Angela L. ; Doherty, Dan ; Dempsey, Jennifer C. ; Miller, Daniel G. ; Kircher, Martin ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Mefford, Heather C. ; Sol-Church, Katia
In The American Journal of Human Genetics 3 January 2019 104(1):35-44
Academic Journal
Vincenzo Salpietro; Christine L. Dixon; Hui Guo; Oscar D. Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Stephanie Valence; Erin Torti; Moritz Hacke; Julia Rankin; Huma Tariq; Estelle Colin; Vincent Procaccio; Pasquale Striano; Kshitij Mankad; Andreas Lieb; Sharon Chen; Laura Pisani; Conceicao Bettencourt; Roope Männikkö; Andreea Manole; Alfredo Brusco; Enrico Grosso; Giovanni Battista Ferrero; Judith Armstrong-Moron; Sophie Gueden; Omer Bar-Yosef; Michal Tzadok; Kristin G. Monaghan; Teresa Santiago-Sim; Richard E. Person; Megan T. Cho; Rebecca Willaert; Yongjin Yoo; Jong-Hee Chae; Yingting Quan; Huidan Wu; Tianyun Wang; Raphael A. Bernier; Kun Xia; Alyssa Blesson; Mahim Jain; Mohammad M. Motazacker; Bregje Jaeger; Amy L. Schneider; Katja Boysen; Alison M. Muir; Candace T. Myers; Ralitza H. Gavrilova; Lauren Gunderson; Laura Schultz-Rogers; Eric W. Klee; David Dyment; Matthew Osmond; Mara Parellada; Cloe Llorente; Javier Gonzalez-Peñas; Angel Carracedo; Arie Van Haeringen; Claudia Ruivenkamp; Caroline Nava; Delphine Heron; Rosaria Nardello; Michele Iacomino; Carlo Minetti; Aldo Skabar; Antonella Fabretto; SYNAPS Study Group; Miquel Raspall-Chaure; Michael Chez; Anne Tsai; Emily Fassi; Marwan Shinawi; John N. Constantino; Rita De Zorzi; Sara Fortuna; Fernando Kok; Boris Keren; Dominique Bonneau; Murim Choi; Bruria Benzeev; Federico Zara; Heather C. Mefford; Ingrid E. Scheffer; Jill Clayton-Smith; Alfons Macaya; James E. Rothman; Evan E. Eichler; Dimitri M. Kullmann; Henry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Academic Journal
Galizia, Elizabeth C; Myers, Candace T; Leu, Costin; de Kovel, Carolien G F; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G; Mullen, Saul A; Berkovic, Samuel F; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D; Esguerra; Zara Federico; Striano Pasquale; Camila V; Kasteleijn-Nolst Trenité, Dorothee G A; Koeleman, Bobby P C; Mefford, Heather C; Scheffer, Ingrid E; Sisodiya, Sanjay M
Brain
Galizia, E C,Myers , C T , Leu, C, de Kovel, C G F, Afrikanova, T , Cordero-Maldonado, M L, Martins, T G, Jacmin, M, Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M, Sander, T , Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Galizia, E C,
Academic Journal
Hamdan, Fadi F. ; Myers, Candace T. ; Cossette, Patrick ; Lemay, Philippe ; Spiegelman, Dan ; Laporte, Alexandre Dionne ; Nassif, Christina ; Diallo, Ousmane ; Monlong, Jean ; Cadieux-Dion, Maxime ; Dobrzeniecka, Sylvia ; Meloche, Caroline ; Retterer, Kyle ; Cho, Megan T. ; Rosenfeld, Jill A. ; Bi, Weimin ; Massicotte, Christine ; Miguet, Marguerite ; Brunga, Ledia ; Regan, Brigid M. ; Mo, Kelly ; Tam, Cory ; Schneider, Amy ; Hollingsworth, Georgie ; FitzPatrick, David R. ; Donaldson, Alan ; Canham, Natalie ; Blair, Edward ; Kerr, Bronwyn ; Fry, Andrew E. ; Thomas, Rhys H. ; Shelagh, Joss ; Hurst, Jane A. ; Brittain, Helen ; Blyth, Moira ; Lebel, Robert Roger ; Gerkes, Erica H. ; Davis-Keppen, Laura ; Stein, Quinn ; Chung, Wendy K. ; Dorison, Sara J. ; Benke, Paul J. ; Fassi, Emily ; Corsten-Janssen, Nicole ; Kamsteeg, Erik-Jan ; Mau-Them, Frederic T. ; Bruel, Ange-Line ; Verloes, Alain ; Õunap, Katrin ; Wojcik, Monica H. ; Albert, Dara V.F. ; Venkateswaran, Sunita ; Ware, Tyson ; Jones, Dean ; Liu, Yu-Chi ; Mohammad, Shekeeb S. ; Bizargity, Peyman ; Bacino, Carlos A. ; Leuzzi, Vincenzo ; Martinelli, Simone ; Dallapiccola, Bruno ; Tartaglia, Marco ; Blumkin, Lubov ; Wierenga, Klaas J. ; Purcarin, Gabriela ; O’Byrne, James J. ; Stockler, Sylvia ; Lehman, Anna ; Keren, Boris ; Nougues, Marie-Christine ; Mignot, Cyril ; Auvin, Stéphane ; Nava, Caroline ; Hiatt, Susan M. ; Bebin, Martina ; Shao, Yunru ; Scaglia, Fernando ; Lalani, Seema R. ; Frye, Richard E. ; Jarjour, Imad T. ; Jacques, Stéphanie ; Boucher, Renee-Myriam ; Riou, Emilie ; Srour, Myriam ; Carmant, Lionel ; Lortie, Anne ; Major, Philippe ; Diadori, Paola ; Dubeau, François ; D’Anjou, Guy ; Bourque, Guillaume ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Campeau, Philippe M. ; Kibar, Zoha ; Lafrenière, Ronald G. ; Girard, Simon L. ; Mercimek-Mahmutoglu, Saadet ; Boelman, Cyrus ; Rouleau, Guy A. ; Scheffer, Ingrid E. ; Mefford, Heather C. ; Andrade, Danielle M. ; Rossignol, Elsa ; Minassian, Berge A. ; Michaud, Jacques L.
In The American Journal of Human Genetics 2 November 2017 101(5):664-685
Academic Journal
Viswanathan, Sindhu; Oliver, Karen L.; Regan, Brigid M.; Schneider, Amy L.; Myers, Candace T.; Mehaffey, Michele G.; LaCroix, Amy J.; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M.; Chiu, Annie T. G.; Roza, Eugenia; Teleanu, Raluca I.; Malone, Stephen; Leventer, Richard J.; Gill, Deepak; Berkovic, Samuel F.; Hildebrand, Michael S.; Goad, Beatrice S.; Howell, Katherine B.; Symonds, Joseph D.; Brunklaus, Andreas; Sadleir, Lynette G.; Zuberi, Sameer M.; Mefford, Heather C.; Scheffer, Ingrid E.
Academic Journal
Myers, Candace T. ; Stong, Nicholas ; Mountier, Emily I. ; Helbig, Katherine L. ; Freytag, Saskia ; Sullivan, Joseph E. ; Ben Zeev, Bruria ; Nissenkorn, Andreea ; Tzadok, Michal ; Heimer, Gali ; Shinde, Deepali N. ; Rezazadeh, Arezoo ; Regan, Brigid M. ; Oliver, Karen L. ; Ernst, Michelle E. ; Lippa, Natalie C. ; Mulhern, Maureen S. ; Ren, Zhong ; Poduri, Annapurna ; Andrade, Danielle M. ; Bird, Lynne M. ; Bahlo, Melanie ; Berkovic, Samuel F. ; Lowenstein, Daniel H. ; Scheffer, Ingrid E. ; Sadleir, Lynette G. ; Goldstein, David B. ; Mefford, Heather C. ; Heinzen, Erin L.
In The American Journal of Human Genetics 5 October 2017 101(4):516-524
Academic Journal
Paschal, Cate Randall; Myers, Candace T.; Gillentine, Madelyn; Sternen, Darci L.; Squire, Audrey; Fechner, Patricia; Oelschlager, Anne-Marie Amies; Shnorhavorian, Margarett; Adam, Margaret
Cancer Genetics. 264-265:11-11
Academic Journal
Sheri A. Poskanzer; Jenny Thies; Christopher J. Collins; Candace T. Myers; Remwilyn Dayuha; Phi Duong; Fan Yi; Irene J. Chang; Hans D. Ochs; Troy R. Torgerson; Si Houn Hahn
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Academic Journal
de Lange, Iris M; Helbig, Katherine L.; Weckhuysen, Sarah; Møller, Rikke S.; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C.; Myers, Candace T.; van Paesschen, Wim; STRIANO, PASQUALE; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G. F.; Piard, Juliette; Minassian, Berge A.; Nezarati, Marjan M.; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H.; Koeleman, Bobby P. C.; Craiu, Dana; Davila, Carol; Obregia, Alexandru; De Jonghe, Peter; Guerrini, Renzo; Lehesjoki, Anna Elina; Marini, Carla; Muhle, Hiltrud; Neubauer, Bernd; Pal, Deb; Selmer, Kaja; Stephani, Ulrich; Sterbova, Katalin; Talvik, Tiina; von Spiczak, Sarah; Caglayan, Hande; Weber, Yvonne; Hoffman Zacharska, Dorota
J Med Genet
Journal of Medical Genetics
Journal of medical genetics
de Lange, I M, Helbig, K L, Weckhuysen, S, Møller, R S, Velinov, M, Dolzhanskaya, N, Marsh, E, Helbig, I, Devinsky, O, Tang, S, Mefford, H C,Myers , C T , van Paesschen, W, Striano, P, van Gassen, K, van Kempen, M, de Kovel, C G F, Piard, J, Minassian, B A, Nezarati, M M, Pessoa, A, Jacquette, A, Maher, B, Balestrini, S, Sisodiya, S, Warde, M T A, De St Martin, A, Chelly, J, EuroEPINOMICS-RES MAE working group, van 't Slot, R, Van Maldergem, L, Brilstra, E H & Koeleman, B P C 2016, ' De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy ', Journal of Medical Genetics, vol. 53, no. 12, pp. 850-858 . https://doi.org/10.1136/jmedgenet-2016-103909
Journal of Medical Genetics
Journal of medical genetics
de Lange, I M, Helbig, K L, Weckhuysen, S, Møller, R S, Velinov, M, Dolzhanskaya, N, Marsh, E, Helbig, I, Devinsky, O, Tang, S, Mefford, H C,
Academic Journal
Muir, Alison M.; Myers, Candace T.; Nguyen, Nancy T.; Saykally, Julia; Craiu, Dana; De Jonghe, Peter; Helbig, Ingo; Hoffman-Zacharska, Dorota; Guerrini, Renzo; Lehesjoki, Anna-Elina; Marini, Carla; Møller, Rikke S.; Serratosa, Jose; Štěrbová, Katalin; Striano, Pasquale; von Spiczak, Sarah; Weckhuysen, Sarah; Mefford, Heather C.
Epilepsy Research. 156
Academic Journal
Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M; Labalme, Audrey; Salmi, Manal; Bache, Iben; Bruneau, Nadine; Pendziwiat, Manuela; Fluss, Joel; de Bellescize, Julitta; Scholly, Julia; Moller, Rikke S.; Craiu, Dana; Tommerup, Niels; Valenti-Hirsch, Maria Paola; Schluth-Bolard, Caroline; Sloan-Béna, Frédérique; Helbig, Katherine L; Weckhuysen, Sarah; Edery, Patrick; Coulbaut, Safia; Abbas, Mohamed; Scheffer, Ingrid E; Tang, Sha; Myers, Candace T; Stamberger, Hannah; Carvill, Gemma L; Shinde, Deepali N; Mefford, Heather C; Neagu, Elena; Huether, Robert; Lu, Hsiao-Mei; Dica, Alice; Cohen, Julie S; Iliescu, Catrinel; Pomeran, Cristina; Rubenstein, James; Helbig, Ingo; Sanlaville, Damien; Hirsch, Edouard; Szepetowski, Pierre
European Journal of Human Genetics, Vol. 24, No 12 (2016) pp. 1761-1770
Rudolf, G, Lesca, G, Mehrjouy, M M, Labalme, A, Salmi, M, Bache, I, Bruneau, N, Pendziwiat, M, Fluss, J, de Bellescize, J, Scholly, J, Møller, R S, Craiu, D, Tommerup, N, Valenti-Hirsch, M P, Schluth-Bolard, C, Sloan-Béna, F, Helbig, K L, Weckhuysen, S, Edery, P, Coulbaut, S, Abbas, M, Scheffer, I E, Tang, S,Myers , C T , Stamberger, H, Carvill, G L, Shinde, D N, Mefford, H C, Neagu, E, Huether, R, Lu, H-M, Dica, A, Cohen, J S, Iliescu, C, Pomeran, C, Rubenstein, J, Helbig, I, Sanlaville, D, Hirsch, E & Szepetowski, P 2016, ' Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy ', European Journal of Human Genetics, vol. 24, pp. 1761-1770 . https://doi.org/10.1038/ejhg.2016.80
Rudolf, G, Lesca, G, Mehrjouy, M M, Labalme, A, Salmi, M, Bache, I, Bruneau, N, Pendziwiat, M, Fluss, J, de Bellescize, J, Scholly, J, Møller, R S, Craiu, D, Tommerup, N, Valenti-Hirsch, M P, Schluth-Bolard, C, Sloan-Béna, F, Helbig, K L, Weckhuysen, S, Edery, P, Coulbaut, S, Abbas, M, Scheffer, I E, Tang, S,
Academic Journal
Myers, Candace T.; McMahon, Jacinta M.; Schneider, Amy L.; Petrovski, Slavé; Allen, Andrew S.; Carvill, Gemma L.; Zemel, Matthew; Saykally, Julia E.; LaCroix, Amy J.; Heinzen, Erin L.; Hollingsworth, Georgina; Nikanorova, Marina; Corbett, Mark; Gecz, Jozef; Coman, David; Freeman, Jeremy; Calvert, Sophie; Gill, Deepak; Carney, Patrick; Lerman-Sagie, Tally; Sampaio, Hugo; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E.; Epstein, Michael P.; Glauser, Tracy; Johnson, Michael R.; Kuzniecky, Ruben; Marson, Anthony G.; O’Brien, Terence J.; Ottman, Ruth; Petrou, Stephen; Poduri, Annapurna; Pickrell, William O.; Chung, Seo-Kyung; Rees, Mark I.; Sherr, Elliott; Sadleir, Lynette G.; Goldstein, David B.; Lowenstein, Daniel H.; Møller, Rikke S.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.
In The American Journal of Human Genetics 4 August 2016 99(2):287-298
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