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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. [electronic resource] by
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- Tian, Guoling
- Saillour, Yoann
- Boscheron, Cécile
- Parrini, Elena
- Valence, Stephanie
- Pierre, Benjamin Saint
- Oger, Madison
- Lacombe, Didier
- Geneviève, David
- Fontana, Elena
- Darra, Franscesca
- Cances, Claude
- Barth, Magalie
- Bonneau, Dominique
- Bernadina, Bernardo Dalla
- N'guyen, Sylvie
- Gitiaux, Cyril
- Parent, Philippe
- des Portes, Vincent
- Pedespan, Jean Michel
- Legrez, Victoire
- Castelnau-Ptakine, Laetitia
- Nitschke, Patrick
- Hieu, Thierry
- Masson, Cecile
- Zelenika, Diana
- Andrieux, Annie
- Francis, Fiona
- Guerrini, Renzo
- Cowan, Nicholas J
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- Chelly, Jamel
Producer: 20130802
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Nature genetics vol. 45
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. [electronic resource] by
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- Das, Soma
- Bastos, Alexandre
- Valerio, Rosa M
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- Scheffer, Ingrid E
- Berkovic, Samuel
- Guerrini, Renzo
- Dravet, Charlotte
- Ono, Jiro
- Gigli, GianLuigi
- Federico, Antonio
- Booth, Fran
- Bernardi, Bruno
- Volpi, Lilia
- Tassinari, Carlo Alberto
- Guggenheim, Mary Anne
- Ledbetter, David H
- Gleeson, Joseph G
- Lopes-Cendes, Iscia
- Vossler, David G
- Malaspina, Elisabetta
- Franzoni, Emilio
- Sartori, Roberto J
- Mitchell, Michael H
- Mercho, Suha
- Dubeau, François
- Andermann, Frederick
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. [electronic resource] by
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- Kitamura, Kunio
- Morohashi, Ken-Ichirou
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- Brady, Angela F
- Carpenter, Nancy J
- Cipero, Karen L
- Frisone, Francesco
- Fukuda, Takayuki
- Guerrini, Renzo
- Iida, Eri
- Itoh, Masayuki
- Lewanda, Amy Feldman
- Nanba, Yukiko
- Oka, Akira
- Proud, Virginia K
- Saugier-Veber, Pascale
- Schelley, Susan L
- Selicorni, Angelo
- Shaner, Rachel
- Silengo, Margherita
- Stewart, Fiona
- Sugiyama, Noriyuki
- Toyama, Jun
- Toutain, Annick
- Vargas, Ana Lía
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Somatic mutations in cerebral cortical malformations. [electronic resource] by
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- Hill, Robert Sean
- Partlow, Jennifer N
- Rozzo, Aldo
- Servattalab, Sarah
- Mehta, Bhaven K
- Topcu, Meral
- Amrom, Dina
- Andermann, Eva
- Dan, Bernard
- Parrini, Elena
- Guerrini, Renzo
- Scheffer, Ingrid E
- Berkovic, Samuel F
- Leventer, Richard J
- Shen, Yiping
- Wu, Bai Lin
- Barkovich, A James
- Sahin, Mustafa
- Chang, Bernard S
- Bamshad, Michael
- Nickerson, Deborah A
- Shendure, Jay
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The phenotypic spectrum of SCN8A encephalopathy. [electronic resource] by
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- 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
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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. [electronic resource] by
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- Schmucker, Stéphane
- Drouot, Nathalie
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- Metcalfe, Kay A
- Isidor, Bertrand
- Louvier, Ulrike Walther
- Poduri, Annapurna
- Taylor, Jenny C
- Tilly, Peggy
- Poirier, Karine
- Saillour, Yoann
- Lebrun, Nicolas
- Stemmelen, Tristan
- Rudolf, Gabrielle
- Muraca, Giuseppe
- Saintpierre, Benjamin
- Elmorjani, Adrienne
- Moïse, Martin
- Weirauch, Nathalie Bednarek
- Guerrini, Renzo
- Boland, Anne
- Olaso, Robert
- Masson, Cecile
- Tripathy, Ratna
- Keays, David
- Beldjord, Cherif
- Nguyen, Laurent
- Godin, Juliette
- Kini, Usha
- Nischké, Patrick
- Deleuze, Jean-François
- Bahi-Buisson, Nadia
- Sumara, Izabela
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Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study. [electronic resource] by
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- Stivala, Micol
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- Albamonte, Emilio
- Ranalli, Domiziana
- Battaglia, Domenica
- Lunardi, Giada
- Boniver, Clementina
- Piccolo, Benedetta
- Pisani, Francesco
- Cantalupo, Gaetano
- Nieddu, Giuliana
- Casellato, Susanna
- Cappanera, Silvia
- Cesaroni, Elisabetta
- Zamponi, Nelia
- Serino, Domenico
- Fusco, Lucia
- Iodice, Alessandro
- Palestra, Filippo
- Giordano, Lucio
- Freri, Elena
- De Giorgi, Ilaria
- Ragona, Francesca
- Granata, Tiziana
- Fiocchi, Isabella
- Bova, Stefania Maria
- Mastrangelo, Massimo
- Verrotti, Alberto
- Matricardi, Sara
- Fontana, Elena
- Caputo, Davide
- Darra, Francesca
- Dalla Bernardina, Bernardo
- Beccaria, Francesca
- Capovilla, Giuseppe
- Baglietto, Maria Pia
- Gagliardi, Alessandra
- Vignoli, Aglaia
- Canevini, Maria Paola
- Perissinotto, Egle
- Francione, Stefano
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In:
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. [electronic resource] by
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- Weber, Yvonne
- Weckhuysen, Sarah
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- Djémié, Tania
- Afrikanova, Tatiana
- Gormley, Padhraig
- von Spiczak, Sarah
- Kluger, Gerhard
- Iliescu, Catrinel M
- Talvik, Tiina
- Talvik, Inga
- Meral, Cihan
- Caglayan, Hande S
- Giraldez, Beatriz G
- Serratosa, José
- Lemke, Johannes R
- Hoffman-Zacharska, Dorota
- Szczepanik, Elzbieta
- Barisic, Nina
- Komarek, Vladimir
- Hjalgrim, Helle
- Møller, Rikke S
- Linnankivi, Tarja
- Dimova, Petia
- Striano, Pasquale
- Zara, Federico
- Marini, Carla
- Guerrini, Renzo
- Depienne, Christel
- Baulac, Stéphanie
- Kuhlenbäumer, Gregor
- Crawford, Alexander D
- Lehesjoki, Anna-Elina
- de Witte, Peter A M
- Palotie, Aarno
- Lerche, Holger
- Esguerra, Camila V
- De Jonghe, Peter
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Producer: 20131230
In:
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. [electronic resource] by
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- Mütze, Ulrike
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- Albrecht, Beate
- Bernbeck, Ulrich
- van Binsbergen, Ellen
- Biskup, Saskia
- Burglen, Lydie
- Denecke, Jonas
- Heron, Bénédicte
- Heyne, Henrike O
- Hoffmann, Georg F
- Hornemann, Frauke
- Matsushige, Takeshi
- Matsuura, Ryuki
- Kato, Mitsuhiro
- Korenke, G Christoph
- Kuechler, Alma
- Lämmer, Constanze
- Merkenschlager, Andreas
- Mignot, Cyril
- Ruf, Susanne
- Nakashima, Mitsuko
- Saitsu, Hirotomo
- Stamberger, Hannah
- Pisano, Tiziana
- Tohyama, Jun
- Weckhuysen, Sarah
- Werckx, Wendy
- Wickert, Julia
- Mari, Francesco
- Verbeek, Nienke E
- Møller, Rikke S
- Koeleman, Bobby
- Matsumoto, Naomichi
- Dobyns, William B
- Battaglia, Domenica
- Lemke, Johannes R
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Producer: 20171030
In:
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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. [electronic resource] by
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- Marini, Carla
- Johannesen, Katrine M
- Brilstra, Eva H
- Vaher, Ulvi
- Borggraefe, Ingo
- Talvik, Inga
- Talvik, Tiina
- Kluger, Gerhard
- Francois, Laurence L
- Lesca, Gaetan
- de Bellescize, Julitta
- Blichfeldt, Susanne
- Chatron, Nicolas
- Holert, Nils
- Jacobs, Julia
- Swinkels, Marielle
- Betzler, Cornelia
- Syrbe, Steffen
- Nikanorova, Marina
- Myers, Candace T
- Larsen, Line H G
- Vejzovic, Sabina
- Pendziwiat, Manuela
- von Spiczak, Sarah
- Hopkins, Sarah
- Dubbs, Holly
- Mang, Yuan
- Mukhin, Konstantin
- Holthausen, Hans
- van Gassen, Koen L
- Dahl, Hans A
- Tommerup, Niels
- Mefford, Heather C
- Rubboli, Guido
- Guerrini, Renzo
- Lemke, Johannes R
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- Maljevic, Snezana
Producer: 20170519
In:
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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. [electronic resource] by
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- Marini, Carla
- Pfeffer, Siona
- Møller, Rikke S
- Dorn, Thomas
- Niturad, Cristina Elena
- Gardella, Elena
- Weber, Yvonne
- Søndergård, Marianne
- Hjalgrim, Helle
- Nikanorova, Mariana
- Becker, Felicitas
- Larsen, Line H G
- Dahl, Hans A
- Maier, Oliver
- Mei, Davide
- Biskup, Saskia
- Klein, Karl M
- Reif, Philipp S
- Rosenow, Felix
- Elias, Abdallah F
- Hudson, Cindy
- Helbig, Katherine L
- Schubert-Bast, Susanne
- Scordo, Maria R
- Craiu, Dana
- Djémié, Tania
- Hoffman-Zacharska, Dorota
- Caglayan, Hande
- Helbig, Ingo
- Serratosa, Jose
- Striano, Pasquale
- De Jonghe, Peter
- Weckhuysen, Sarah
- Suls, Arvid
- Muru, Kai
- Talvik, Inga
- Talvik, Tiina
- Muhle, Hiltrud
- Borggraefe, Ingo
- Rost, Imma
- Guerrini, Renzo
- Lerche, Holger
- Lemke, Johannes R
- Rubboli, Guido
- Maljevic, Snezana
Producer: 20170605
In:
Neurology vol. 87
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. [electronic resource] by
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- Campbell, Catarina D
- Solovieff, Nadia
- Goold, Carleton
- Jansen, Laura A
- Menon, Suchithra
- Timms, Andrew E
- Conti, Valerio
- Biag, Jonathan D
- Adams, Carissa
- Boyle, Evan August
- Collins, Sarah
- Ishak, Gisele
- Poliachik, Sandra
- Girisha, Katta M
- Yeung, Kit San
- Chung, Brian Hon Yin
- Rahikkala, Elisa
- Gunter, Sonya A
- McDaniel, Sharon S
- Macmurdo, Colleen Forsyth
- Bernstein, Jonathan A
- Martin, Beth
- Leary, Rebecca
- Mahan, Scott
- Liu, Shanming
- Weaver, Molly
- Doerschner, Michael
- Jhangiani, Shalini
- Muzny, Donna M
- Boerwinkle, Eric
- Gibbs, Richard A
- Lupski, James R
- Shendure, Jay
- Saneto, Russell P
- Novotny, Edward J
- Wilson, Christopher J
- Sellers, William R
- Morrissey, Michael
- Hevner, Robert F
- Ojemann, Jeffrey G
- Guerrini, Renzo
- Murphy, Leon O
- Winckler, Wendy
- Dobyns, William B
Producer: 20170526
In:
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Pitfalls in genetic testing: the story of missed SCN1A mutations. [electronic resource] by
- 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
Producer: 20160728
In:
Molecular genetics & genomic medicine vol. 4
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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. [electronic resource] by
- Bonaglia, Maria Clara
- Giorda, Roberto
- Beri, Silvana
- De Agostini, Cristina
- Novara, Francesca
- Fichera, Marco
- Grillo, Lucia
- Galesi, Ornella
- Vetro, Annalisa
- Ciccone, Roberto
- Bonati, Maria Teresa
- Giglio, Sabrina
- Guerrini, Renzo
- Osimani, Sara
- Marelli, Susan
- Zucca, Claudio
- Grasso, Rita
- Borgatti, Renato
- Mani, Elisa
- Motta, Cristina
- Molteni, Massimo
- Romano, Corrado
- Greco, Donatella
- Reitano, Santina
- Baroncini, Anna
- Lapi, Elisabetta
- Cecconi, Antonella
- Arrigo, Giulia
- Patricelli, Maria Grazia
- Pantaleoni, Chiara
- D'Arrigo, Stefano
- Riva, Daria
- Sciacca, Francesca
- Dalla Bernardina, Bernardo
- Zoccante, Leonardo
- Darra, Francesca
- Termine, Cristiano
- Maserati, Emanuela
- Bigoni, Stefania
- Priolo, Emanuela
- Bottani, Armand
- Gimelli, Stefania
- Bena, Frederique
- Brusco, Alfredo
- di Gregorio, Eleonora
- Bagnasco, Irene
- Giussani, Ursula
- Nitsch, Lucio
- Politi, Pierluigi
- Martinez-Frias, Maria Luisa
- Martínez-Fernández, Maria Luisa
- Martínez Guardia, Nieves
- Bremer, Anna
- Anderlid, Britt-Marie
- Zuffardi, Orsetta
Producer: 20120221
In:
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- Mirzaa, Ghayda
- Timms, Andrew E
- Conti, Valerio
- Boyle, Evan August
- Girisha, Katta M
- Martin, Beth
- Kircher, Martin
- Olds, Carissa
- Juusola, Jane
- Collins, Sarah
- Park, Kaylee
- Carter, Melissa
- Glass, Ian
- Krägeloh-Mann, Inge
- Chitayat, David
- Parikh, Aditi Shah
- Bradshaw, Rachael
- Torti, Erin
- Braddock, Stephen
- Burke, Leah
- Ghedia, Sondhya
- Stephan, Mark
- Stewart, Fiona
- Prasad, Chitra
- Napier, Melanie
- Saitta, Sulagna
- Straussberg, Rachel
- Gabbett, Michael
- O'Connor, Bridget C
- Keegan, Catherine E
- Yin, Lim Jiin
- Lai, Angeline Hwei Meeng
- Martin, Nicole
- McKinnon, Margaret
- Addor, Marie-Claude
- Boccuto, Luigi
- Schwartz, Charles E
- Lanoel, Agustina
- Conway, Robert L
- Devriendt, Koenraad
- Tatton-Brown, Katrina
- Pierpont, Mary Ella
- Painter, Michael
- Worgan, Lisa
- Reggin, James
- Hennekam, Raoul
- Tsuchiya, Karen
- Pritchard, Colin C
- Aracena, Mariana
- Gripp, Karen W
- Cordisco, Maria
- Van Esch, Hilde
- Garavelli, Livia
- Curry, Cynthia
- Goriely, Anne
- Kayserilli, Hulya
- Shendure, Jay
- Graham, John
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In:
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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. [electronic resource] by
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- de Kovel, Carolien G F
- Zara, Federico
- Striano, Pasquale
- Pezzella, Marianna
- Robbiano, Angela
- Bianchi, Amedeo
- Bisulli, Francesca
- Coppola, Antonietta
- Giallonardo, Anna Teresa
- Beccaria, Francesca
- Trenité, Dorothée Kasteleijn-Nolst
- Lindhout, Dick
- Gaus, Verena
- Schmitz, Bettina
- Janz, Dieter
- Weber, Yvonne G
- Becker, Felicitas
- Lerche, Holger
- Kleefuss-Lie, Ailing A
- Hallman, Kerstin
- Kunz, Wolfram S
- Elger, Christian E
- Muhle, Hiltrud
- Stephani, Ulrich
- Møller, Rikke S
- Hjalgrim, Helle
- Mullen, Saul
- Scheffer, Ingrid E
- Berkovic, Samuel F
- Everett, Kate V
- Gardiner, Mark R
- Marini, Carla
- Guerrini, Renzo
- Lehesjoki, Anna-Elina
- Siren, Auli
- Nabbout, Rima
- Baulac, Stephanie
- Leguern, Eric
- Serratosa, Jose M
- Rosenow, Felix
- Feucht, Martha
- Unterberger, Iris
- Covanis, Athanasios
- Suls, Arvid
- Weckhuysen, Sarah
- Kaneva, Radka
- Caglayan, Hande
- Turkdogan, Dilsad
- Baykan, Betul
- Bebek, Nerses
- Ozbek, Ugur
- Hempelmann, Anne
- Schulz, Herbert
- Rüschendorf, Franz
- Trucks, Holger
- Nürnberg, Peter
- Avanzini, Giuliano
- Koeleman, Bobby P C
- Sander, Thomas
Producer: 20120309
In:
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Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery. [electronic resource] by
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- Spreafico, Roberto
- Haaker, Gerrit
- Coras, Roland
- Kobow, Katja
- Bien, Christian G
- Pfäfflin, Margarete
- Elger, Christian
- Widman, Guido
- Schramm, Johannes
- Becker, Albert
- Braun, Kees P
- Leijten, Frans
- Baayen, Johannes C
- Aronica, Eleonora
- Chassoux, Francine
- Hamer, Hajo
- Stefan, Hermann
- Rössler, Karl
- Thom, Maria
- Walker, Matthew C
- Sisodiya, Sanjay M
- Duncan, John S
- McEvoy, Andrew W
- Pieper, Tom
- Holthausen, Hans
- Kudernatsch, Manfred
- Meencke, H Joachim
- Kahane, Philippe
- Schulze-Bonhage, Andreas
- Zentner, Josef
- Heiland, Dieter H
- Urbach, Horst
- Steinhoff, Bernhard J
- Bast, Thomas
- Tassi, Laura
- Lo Russo, Giorgio
- Özkara, Cigdem
- Oz, Buge
- Krsek, Pavel
- Vogelgesang, Silke
- Runge, Uwe
- Lerche, Holger
- Weber, Yvonne
- Honavar, Mrinalini
- Pimentel, José
- Arzimanoglou, Alexis
- Ulate-Campos, Adriana
- Noachtar, Soheyl
- Hartl, Elisabeth
- Schijns, Olaf
- Guerrini, Renzo
- Barba, Carmen
- Jacques, Thomas S
- Cross, J Helen
- Feucht, Martha
- Mühlebner, Angelika
- Grunwald, Thomas
- Trinka, Eugen
- Winkler, Peter A
- Gil-Nagel, Antonio
- Toledano Delgado, Rafael
- Mayer, Thomas
- Lutz, Martin
- Zountsas, Basilios
- Garganis, Kyriakos
- Rosenow, Felix
- Hermsen, Anke
- von Oertzen, Tim J
- Diepgen, Thomas L
- Avanzini, Giuliano
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In:
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. [electronic resource] by
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- Leu, Costin
- Ruppert, Ann-Kathrin
- Zara, Federico
- Striano, Pasquale
- Robbiano, Angela
- Capovilla, Giuseppe
- Tinuper, Paolo
- Gambardella, Antonio
- Bianchi, Amedeo
- La Neve, Angela
- Crichiutti, Giovanni
- de Kovel, Carolien G F
- Kasteleijn-Nolst Trenité, Dorothée
- de Haan, Gerrit-Jan
- Lindhout, Dick
- Gaus, Verena
- Schmitz, Bettina
- Janz, Dieter
- Weber, Yvonne G
- Becker, Felicitas
- Lerche, Holger
- Steinhoff, Bernhard J
- Kleefuß-Lie, Ailing A
- Kunz, Wolfram S
- Surges, Rainer
- Elger, Christian E
- Muhle, Hiltrud
- von Spiczak, Sarah
- Ostertag, Philipp
- Helbig, Ingo
- Stephani, Ulrich
- Møller, Rikke S
- Hjalgrim, Helle
- Dibbens, Leanne M
- Bellows, Susannah
- Oliver, Karen
- Mullen, Saul
- Scheffer, Ingrid E
- Berkovic, Samuel F
- Everett, Kate V
- Gardiner, Mark R
- Marini, Carla
- Guerrini, Renzo
- Lehesjoki, Anna-Elina
- Siren, Auli
- Guipponi, Michel
- Malafosse, Alain
- Thomas, Pierre
- Nabbout, Rima
- Baulac, Stephanie
- Leguern, Eric
- Guerrero, Rosa
- Serratosa, Jose M
- Reif, Philipp S
- Rosenow, Felix
- Mörzinger, Martina
- Feucht, Martha
- Zimprich, Fritz
- Kapser, Claudia
- Schankin, Christoph J
- Suls, Arvid
- Smets, Katrin
- De Jonghe, Peter
- Jordanova, Albena
- Caglayan, Hande
- Yapici, Zuhal
- Yalcin, Destina A
- Baykan, Betul
- Bebek, Nerses
- Ozbek, Ugur
- Gieger, Christian
- Wichmann, Heinz-Erich
- Balschun, Tobias
- Ellinghaus, David
- Franke, Andre
- Meesters, Christian
- Becker, Tim
- Wienker, Thomas F
- Hempelmann, Anne
- Schulz, Herbert
- Rüschendorf, Franz
- Leber, Markus
- Pauck, Steffen M
- Trucks, Holger
- Toliat, Mohammad R
- Nürnberg, Peter
- Avanzini, Giuliano
- Koeleman, Bobby P C
- Sander, Thomas
Producer: 20130531
In:
Human molecular genetics vol. 21
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