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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Essays in biochemistry, 2018-07, Vol.62 (3), p.409-421
2018
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Human molecular genetics, 2017-11, Vol.26 (21), p.4257-4266
2017
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Data in brief, 2017-12, Vol.15, p.868-875
2017
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Neurology, 2018-09, Vol.91 (12), p.e1112
- Gardella, Elena
- Marini, Carla
- Trivisano, Marina
- Fitzgerald, Mark P
- Alber, Michael
- Howell, Katherine B
- Darra, Francesca
- Siliquini, Sabrina
- Bölsterli, Bigna K
- Masnada, Silva
- Pichiecchio, Anna
- Johannesen, Katrine M
- Jepsen, Birgit
- Fontana, Elena
- Anibaldi, Gaia
- Russo, Silvia
- Cogliati, Francesca
- Montomoli, Martino
- Specchio, Nicola
- Rubboli, Guido
- Veggiotti, Pierangelo
- Beniczky, Sandor
- Wolff, Markus
- Helbig, Ingo
- Vigevano, Federico
- Scheffer, Ingrid E
- Guerrini, Renzo
- Møller, Rikke S
2018
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Human mutation, 2017-02, Vol.38 (2), p.216-225
2017
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Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3473-3481
2019
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European journal of medical genetics, 2023-08, Vol.66 (8), p.104808-104808, Article 104808
2023
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Neurology, 2019-01, Vol.92 (2), p.e96
- Vlaskamp, Danique R M
- Shaw, Benjamin J
- Burgess, Rosemary
- Mei, Davide
- Montomoli, Martino
- Xie, Han
- Myers, Candace T
- Bennett, Mark F
- XiangWei, Wenshu
- Williams, Danielle
- Maas, Saskia M
- Brooks, Alice S
- Mancini, Grazia M S
- van de Laar, Ingrid M B H
- van Hagen, Johanna M
- Ware, Tyson L
- Webster, Richard I
- Malone, Stephen
- Berkovic, Samuel F
- Kalnins, Renate M
- Sicca, Federico
- Korenke, G Christoph
- van Ravenswaaij-Arts, Conny M A
- Hildebrand, Michael S
- Mefford, Heather C
- Jiang, Yuwu
- Guerrini, Renzo
- Scheffer, Ingrid E
2019
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Journal of neurology, neurosurgery and psychiatry, 2021-10, Vol.92 (10), p.1044-1052
- Balestrini, Simona
- Chiarello, Daniela
- Gogou, Maria
- Silvennoinen, Katri
- Puvirajasinghe, Clinda
- Jones, Wendy D
- Reif, Philipp
- Klein, Karl Martin
- Rosenow, Felix
- Weber, Yvonne G
- Lerche, Holger
- Schubert-Bast, Susanne
- Borggraefe, Ingo
- Coppola, Antonietta
- Troisi, Serena
- Møller, Rikke S
- Riva, Antonella
- Striano, Pasquale
- Zara, Federico
- Hemingway, Cheryl
- Marini, Carla
- Rosati, Anna
- Mei, Davide
- Montomoli, Martino
- Guerrini, Renzo
- Cross, J Helen
- Sisodiya, Sanjay M
2021
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European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.648-653
2023
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Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.135-142
2017
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Molecular genetics and metabolism, 2021-12, Vol.134 (4), p.353-358
2021
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Epilepsia (Copenhagen), 2020-06, Vol.61 (6), p.1142-1155
- Bayat, Allan
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- Moura de Souza, Carolina Fischinger
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- Korff, Christian M.
- Kragh Hansen, Johanne
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- McBride, Kim L.
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- Schelhaas, Jurgen H.
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- Wolfe, Lynne A.
- Lal, Dennis
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- Bomme Ousager, Lilian
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- Krawitz, Peter
- Møller, Rikke S.
2020
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Brain (London, England : 1878), 2017-09, Vol.140 (9), p.2322-2336
- Syrbe, Steffen
- Harms, Frederike L
- Parrini, Elena
- Montomoli, Martino
- Mütze, Ulrike
- Helbig, Katherine L
- Polster, Tilman
- 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
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- Stamberger, Hannah
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- Werckx, Wendy
- Wickert, Julia
- Mari, Francesco
- Verbeek, Nienke E
- Møller, Rikke S
- Koeleman, Bobby
- Matsumoto, Naomichi
- Dobyns, William B
- Battaglia, Domenica
- Lemke, Johannes R
- Kutsche, Kerstin
- Guerrini, Renzo
2017
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Nature communications, 2023-07, Vol.14 (1), p.4392-19, Article 4392
2023
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American journal of medical genetics. Part C, Seminars in medical genetics, 2024-07, p.e32099
- Gasparini, Simone
- Balestrini, Simona
- Saccaro, Luigi Francesco
- Bacci, Giacomo
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- Montomoli, Martino
- Cantalupo, Gaetano
- Bigoni, Stefania
- Mancano, Giorgia
- Pellacani, Simona
- Leuzzi, Vincenzo
- Volpi, Nila
- Mari, Francesco
- Melani, Federico
- Cavallin, Mara
- Pisano, Tiziana
- Porcedda, Giulio
- Vaglio, Augusto
- Mei, Davide
- Barba, Carmen
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2024
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Epilepsy research, 2021-02, Vol.170, p.106530-106530, Article 106530
2021
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Genetics in medicine, 2021-02, Vol.23 (2), p.363-373
- 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.
2021
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Nature neuroscience, 2024-10, Vol.27 (10), p.1864-1879
- Chen, Siwei
- Abou-Khalil, Bassel W.
- Afawi, Zaid
- Ali, Quratulain Zulfiqar
- Amadori, Elisabetta
- Anderson, Alison
- Anderson, Joe
- Andrade, Danielle M.
- Annesi, Grazia
- Arslan, Mutluay
- Auce, Pauls
- Bahlo, Melanie
- Baker, Mark D.
- Balagura, Ganna
- Balestrini, Simona
- Banks, Eric
- Barba, Carmen
- Barboza, Karen
- Bartolomei, Fabrice
- Bass, Nick
- Baum, Larry W.
- Baumgartner, Tobias H.
- Baykan, Betül
- Bebek, Nerses
- Becker, Felicitas
- Bennett, Caitlin A.
- Beydoun, Ahmad
- Bianchini, Claudia
- Bisulli, Francesca
- Blackwood, Douglas
- Blatt, Ilan
- Borggräfe, Ingo
- Bosselmann, Christian
- Braatz, Vera
- Brand, Harrison
- Brockmann, Knut
- Buono, Russell J.
- Busch, Robyn M.
- Caglayan, S. Hande
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- Canavati, Christina
- Castellotti, Barbara
- Cavalleri, Gianpiero L.
- Cerrato, Felecia
- Chassoux, Francine
- Cherian, Christina
- Cherny, Stacey S.
- Cheung, Ching-Lung
- Chou, I-Jun
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- Ciullo, Valentina
- Clark, Peggy O.
- Cole, Andrew J.
- Cosico, Mahgenn
- Cossette, Patrick
- Cotsapas, Chris
- Cusick, Caroline
- Daly, Mark J.
- Davis, Lea K.
- Jonghe, Peter De
- Delanty, Norman
- Dennig, Dieter
- Depondt, Chantal
- Derambure, Philippe
- Devinsky, Orrin
- Vito, Lidia Di
- Dickerson, Faith
- Dlugos, Dennis J.
- Doccini, Viola
- Doherty, Colin P.
- El-Naggar, Hany
- Ellis, Colin A.
- Epstein, Leon
- Evans, Meghan
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- Feng, Yen-Chen Anne
- Ferguson, Lisa
- Ferraro, Thomas N.
- Silva, Izabela Ferreira Da
- Ferri, Lorenzo
- Feucht, Martha
- Fields, Madeline C.
- Fitzgerald, Mark
- Fonferko-Shadrach, Beata
- Fortunato, Francesco
- Franceschetti, Silvana
- French, Jacqueline A.
- Freri, Elena
- Fu, Jack M.
- Gabriel, Stacey
- Gagliardi, Monica
- Gambardella, Antonio
- Gauthier, Laura
- Giangregorio, Tania
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- Glauser, Tracy A.
- Goldberg, Ethan
- Goldman, Alica
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2024
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Human mutation, 2020-01, Vol.41 (1), p.69-80
- Bar, Claire
- Barcia, Giulia
- Jennesson, Mélanie
- Le Guyader, Gwenaël
- Schneider, Amy
- Mignot, Cyril
- Lesca, Gaetan
- Breuillard, Delphine
- Montomoli, Martino
- Keren, Boris
- Doummar, Diane
- Billette de Villemeur, Thierry
- Afenjar, Alexandra
- Marey, Isabelle
- Gerard, Marion
- Isnard, Hervé
- Poisson, Alice
- Dupont, Sophie
- Berquin, Patrick
- Meyer, Pierre
- Genevieve, David
- De Saint Martin, Anne
- El Chehadeh, Salima
- Chelly, Jamel
- Guët, Agnès
- Scalais, Emmanuel
- Dorison, Nathalie
- Myers, Candace T.
- Mefford, Heather C.
- Howell, Katherine B.
- Marini, Carla
- Freeman, Jeremy L.
- Nica, Anca
- Terrone, Gaetano
- Sekhara, Tayeb
- Lebre, Anne‐Sophie
- Odent, Sylvie
- Sadleir, Lynette G.
- Munnich, Arnold
- Guerrini, Renzo
- Scheffer, Ingrid E.
- Kabashi, Edor
- Nabbout, Rima
2020
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Epilepsia (Copenhagen), 2020-11, Vol.61 (11), p.2461-2473
- Bar, Claire
- Kuchenbuch, Mathieu
- Barcia, Giulia
- Schneider, Amy
- Jennesson, Mélanie
- Le Guyader, Gwenaël
- Lesca, Gaetan
- Mignot, Cyril
- Montomoli, Martino
- Parrini, Elena
- Isnard, Hervé
- Rolland, Anne
- Keren, Boris
- Afenjar, Alexandra
- Dorison, Nathalie
- Sadleir, Lynette G.
- Breuillard, Delphine
- Levy, Raphael
- Rio, Marlène
- Dupont, Sophie
- Negrin, Susanna
- Danieli, Alberto
- Scalais, Emmanuel
- De Saint Martin, Anne
- El Chehadeh, Salima
- Chelly, Jamel
- Poisson, Alice
- Lebre, Anne‐Sophie
- Nica, Anca
- Odent, Sylvie
- Sekhara, Tayeb
- Brankovic, Vesna
- Goldenberg, Alice
- Vrielynck, Pascal
- Lederer, Damien
- Maurey, Hélène
- Terrone, Gaetano
- Besmond, Claude
- Hubert, Laurence
- Berquin, Patrick
- Billette de Villemeur, Thierry
- Isidor, Bertrand
- Freeman, Jeremy L.
- Mefford, Heather C.
- Myers, Candace T.
- Howell, Katherine B.
- Rodríguez‐Sacristán Cascajo, Andrés
- Meyer, Pierre
- Genevieve, David
- Guët, Agnès
- Doummar, Diane
- Durigneux, Julien
- van Dooren, Marieke F.
- de Wit, Marie Claire Y.
- Gerard, Marion
- Marey, Isabelle
- Munnich, Arnold
- Guerrini, Renzo
- Scheffer, Ingrid E.
- Kabashi, Edor
- Nabbout, Rima
2020
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Genetics in medicine, 2021-11, Vol.23 (11), p.2122-2137
- Weerts, Marjolein J. A.
- Lanko, Kristina
- Guzmán-Vega, Francisco J.
- Jackson, Adam
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- Cardona-Londoño, Kelly J.
- Peña-Guerra, Karla A.
- van Bever, Yolande
- van Paassen, Barbara W.
- Kievit, Anneke
- van Slegtenhorst, Marjon
- Allen, Nicholas M.
- Kehoe, Caroline M.
- Robinson, Hannah K.
- Pang, Lewis
- Banu, Selina H.
- Zaman, Mashaya
- Efthymiou, Stephanie
- Houlden, Henry
- Järvelä, Irma
- Lauronen, Leena
- Määttä, Tuomo
- Schrauwen, Isabelle
- Leal, Suzanne M.
- Ruivenkamp, Claudia A. L.
- Barge-Schaapveld, Daniela Q.C.M.
- Peeters-Scholte, Cacha M. P. C. D.
- Galehdari, Hamid
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- Thies, Jenny
- Pedroza, Luis Alberto
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- Lupski, James R.
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- Jewett, Tamison
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- Lin, Xi
- Mohammed, Shehla
- Merritt, J. Lawrence
- Mirzaa, Ghayda M.
- Timms, Andrew E.
- Scheck, Joshua
- Elting, Mariet W.
- Polstra, Abeltje M.
- Schenck, Lauren
- Ruzhnikov, Maura R. Z.
- Vetro, Annalisa
- Montomoli, Martino
- Guerrini, Renzo
- Koboldt, Daniel C.
- Mosher, Theresa Mihalic
- Pastore, Matthew T.
- McBride, Kim L.
- Peng, Jing
- Pan, Zou
- Willemsen, Marjolein
- Koning, Susanne
- Turnpenny, Peter D.
- de Vries, Bert B. A.
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- Pfundt, Rolph
- Lees, Melissa
- Braddock, Stephen R.
- Klemp, Kara C.
- Vansenne, Fleur
- van Gijn, Marielle E.
- Quindipan, Catherine
- Deardorff, Matthew A.
- Hamm, J. Austin
- Putnam, Abbey M.
- Baud, Rebecca
- Walsh, Laurence
- Lynch, Sally A.
- Baptista, Julia
- Person, Richard E.
- Monaghan, Kristin G.
- Crunk, Amy
- Keller-Ramey, Jennifer
- Reich, Adi
- Elloumi, Houda Zghal
- Alders, Marielle
- Kerkhof, Jennifer
- McConkey, Haley
- Haghshenas, Sadegheh
- Maroofian, Reza
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- Banka, Siddharth
- Arold, Stefan T.
- Barakat, Tahsin Stefan
2021
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European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.695-708
2018
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Molecular genetics and metabolism, 2018-12, Vol.125 (4), p.359-359
2018
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Neurology. Genetics, 2017-04, Vol.3 (2), p.e143-e143
- Danti, Federica Rachele
- Galosi, Serena
- Romani, Marta
- Montomoli, Martino
- Carss, Keren J
- Raymond, F Lucy
- Parrini, Elena
- Bianchini, Claudia
- McShane, Tony
- Dale, Russell C
- Mohammad, Shekeeb S
- Shah, Ubaid
- Mahant, Neil
- Ng, Joanne
- McTague, Amy
- Samanta, Rajib
- Vadlamani, Gayatri
- Valente, Enza Maria
- Leuzzi, Vincenzo
- Kurian, Manju A
- Guerrini, Renzo
2017
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