1
Por Schoeler, Natasha E., Leu, Costin, White, Jon, Plagnol, Vincent, Ellard, Sian, Matarin, Mar, Yellen, Gary, Thiele, Elizabeth A., Mackay, Mark, McMahon, Jacinta M., Scheffer, Ingrid E., Sander, Josemir W., Cross, J. Helen, Sisodiya, Sanjay M.
Publicado no Epilepsy Res (2015)
Obter o texto integralPublicado no Epilepsy Res (2015)
Obter o texto integral
Obter o texto integral
Artigo
2
Por Howell, Katherine B., McMahon, Jacinta M., Carvill, Gemma L., Tambunan, Dimira, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L., Calvert, Sophie, Olson, Heather E., Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C., Harvey, A. Simon, Scheffer, Ingrid E.
Publicado no Neurology (2015)
Obter o texto integralPublicado no Neurology (2015)
Obter o texto integral
Obter o texto integral
Artigo
3
Por Hitomi, Yuki, Heinzen, Erin L., Donatello, Simona, Dahl, Hans-Henrik, Damiano, John A., McMahon, Jacinta M., Berkovic, Samuel F., Scheffer, Ingrid E., Legros, Benjamin, Rai, Myriam, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Pandolfo, Massimo, Goldstein, David B., Van Bogaert, Patrick, Depondt, Chantal
Publicado no Ann Neurol (2013)
Obter o texto integralPublicado no Ann Neurol (2013)
Obter o texto integral
Obter o texto integral
Artigo
4
Por Hildebrand, Michael S., Phillips, A. Marie, Mullen, Saul A., Adlard, Paul A., Hardies, Katia, Damiano, John A., Wimmer, Verena, Bellows, Susannah T., McMahon, Jacinta M., Burgess, Rosemary, Hendrickx, Rik, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Scheffer, Ingrid E., Petrou, Steven, Berkovic, Samuel F., Reid, Christopher A.
Publicado no Sci Rep (2015)
Obter o texto integralPublicado no Sci Rep (2015)
Obter o texto integral
Obter o texto integral
Artigo
5
Por Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Publicado no Neurol Genet (2015)
Obter o texto integralPublicado no Neurol Genet (2015)
Obter o texto integral
Obter o texto integral
Artigo
6
Por Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James, Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.
Publicado em 2011
Obter o texto integralPublicado em 2011
Obter o texto integral
Obter o texto integral
Artigo
7
Por Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
Publicado em 2011
Obter o texto integralPublicado em 2011
Obter o texto integral
Obter o texto integral
Artigo
8
Por Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Publicado no Am J Hum Genet (2015)
Obter o texto integralPublicado no Am J Hum Genet (2015)
Obter o texto integral
Obter o texto integral
Artigo
9
Por Carvill, Gemma L., Weckhuysen, Sarah, McMahon, Jacinta M., Hartmann, Corinna, Møller, Rikke S., Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O’Roak, Brian J., Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G., Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L., Gazina, Elena V., Suls, Arvid, Shendure, Jay, Dibbens, Leanne M., De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Publicado em 2014
Obter o texto integralPublicado em 2014
Obter o texto integral
Obter o texto integral
Artigo
10
Por Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Publicado no EBioMedicine (2015)
Obter o texto integralPublicado no EBioMedicine (2015)
Obter o texto integral
Obter o texto integral
Artigo
11
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Por Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O’Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O, Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Publicado em 2013
Obter o texto integralPublicado em 2013
Obter o texto integral
Obter o texto integral
Artigo
12
Por Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
Publicado no Neurology (2015)
Obter o texto integralPublicado no Neurology (2015)
Obter o texto integral
Obter o texto integral
Artigo
13
Por Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna‐Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G., Gormley, Padhraig, Guerrero‐López, Rosa, Guerrini, Renzo, Hämäläinen, Eija, Hartmann, Corinna, Hernandez‐Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C., Leguern, Eric, Lehesjoki, Anna‐Elina, Lemke, Johannes R., Leu, Costin, Marini, Carla, McMahon, Jacinta M., Mei, Davide, Møller, Rikke S., Muhle, Hiltrud, Myers, Candace T., Nava, Caroline, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A., Verbeek, Nienke E., Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C., Scheffer, Ingrid E., De Jonghe, Peter, Helbig, Ingo, Suls, Arvid
Publicado no Mol Genet Genomic Med (2016)
Obter o texto integralPublicado no Mol Genet Genomic Med (2016)
Obter o texto integral
Obter o texto integral
Artigo