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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...Epilepsia (Copenhagen), 2017-03, Vol.58 (3), p.e40-e43
2017
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American journal of human genetics, 2008-01, Vol.82 (1), p.19-31
2008
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Genome medicine, 2017-06, Vol.9 (1), p.55-55, Article 55
2017
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The Journal of biological chemistry, 2005-04, Vol.280 (17), p.17301-17311
2005
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Scientific reports, 2015-12, Vol.5 (1), p.17816-17816, Article 17816
- 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.
2015
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Annals of clinical and translational neurology, 2015-05, Vol.2 (5), p.575-580
- Scerri, Thomas
- Riseley, Jessica R.
- Gillies, Greta
- Pope, Kate
- Burgess, Rosemary
- Mandelstam, Simone A.
- Dibbens, Leanne
- Chow, Chung W.
- Maixner, Wirginia
- Harvey, Anthony Simon
- Jackson, Graeme D.
- Amor, David J.
- Delatycki, Martin B.
- Crino, Peter B.
- Berkovic, Samuel F.
- Scheffer, Ingrid E.
- Bahlo, Melanie
- Lockhart, Paul J.
- Leventer, Richard J.
2015
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Epileptic disorders, 2017-12, Vol.19 (4), p.450-455
2017
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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa
2009
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
- Howrigan, Daniel P.
- Abbott, Liam E.
- Tashman, Katherine
- Singh, Tarjinder
- Watts, Nick
- Lal, Dennis
- Hakonarson, Hakon
- Weckhuysen, Sarah
- Petrovski, Slavé
- Cossette, Patrick
- Cotsapas, Chris
- De Jonghe, Peter
- Guerrini, Renzo
- Marson, Anthony G.
- Depondt, Chantal
- Striano, Pasquale
- Freyer, Catharine
- Regan, Brigid M.
- Leu, Costin
- Johns, Esther M.C.
- Macdonald, Alexandra
- Bahlo, Melanie
- Todaro, Marian
- Stamberger, Hannah
- Sadoway, Tara R.
- Kousiappa, Ioanna
- Tanteles, George A.
- Štěrbová, Katalin
- Kunz, Wolfram S.
- Zsurka, Gábor
- Elger, Christian E.
- Rademacher, Michael
- van Baalen, Andreas
- von Spiczak, Sarah
- Afawi, Zaid
- Canavati, Christina
- Kluger, Gerhard
- Blatt, Ilan
- Weber, Yvonne G.
- Wolking, Stefan
- Rau, Sarah
- Steinhoff, Bernhard J.
- Schulze-Bonhage, Andreas
- Borggräfe, Ingo
- Madeleyn, Rene
- Kälviäinen, Reetta
- Linnankivi, Tarja
- Chung, Seo-Kyung
- Balestrini, Simona
- Braatz, Vera
- Johnson, Michael R.
- Auce, Pauls
- Sham, Pak C.
- Lui, Colin H.T.
- Doherty, Colin P.
- Shukralla, Arif
- El-Naggar, Hany
- Vari, Maria Stella
- Salpietro, Vincenzo
- Tinuper, Paolo
- Gagliardi, Monica
- Montomoli, Martino
- Doccini, Viola
- Inoue, Yushi
- Yamakawa, Kazuhiro
- Tumiene, Birute
- Sadleir, Lynette G.
- Caglayan, S. Hande
- Arslan, Mutluay
- Yis, Uluc
- Topaloglu, Pınar
- Baykan, Betül
- Salman, Barış
- Haryanyan, Garen
- Özkara, Çiğdem
- Poduri, Annapurna
- Shiedley, Beth R.
- Shain, Catherine
- French, Jacqueline A.
- Kuzniecky, Ruben I.
- Hegde, Manu
- Helbig, Katherine L.
- Piras, Federica
- Reif, Andreas
- McQuillin, Andrew
- Johnstone, Mandy
- Palotie, Aarno
- Carvalho, Celia Barreto
- Achtyes, Eric D.
- Azevedo, Maria Helena
- Kotov, Roman
- Lehrer, Douglas S.
- Marder, Stephen R.
- Medeiros, Helena
- Morley, Christopher P.
- Rapaport, Mark H.
- Knowles, James A.
- McCarroll, Steven A.
- Lowenstein, Daniel H.
- Goldstein, David B.
2019
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Annals of neurology, 2019-12, Vol.86 (6), p.821-831
2019
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Lancet neurology, 2017-02, Vol.16 (2), p.135-143
- Allen, Andrew S
- Bellows, Susannah T
- Berkovic, Samuel F
- Bridgers, Joshua
- Burgess, Rosemary
- Cavalleri, Gianpiero
- Chung, Seo-Kyung
- Cossette, Patrick
- Delanty, Norman
- Dlugos, Dennis
- Epstein, Michael P
- Freyer, Catharine
- Goldstein, David B
- Heinzen, Erin L
- Hildebrand, Michael S
- Johnson, Michael R
- Kuzniecky, Ruben
- Lowenstein, Daniel H
- Marson, Anthony G
- Mayeux, Richard
- Mebane, Caroline
- Mefford, Heather C
- O'Brien, Terence J
- Ottman, Ruth
- Petrou, Steven
- Petrovski, Slavgé
- Pickrell, William O
- Poduri, Annapurna
- Radtke, Rodney A
- Rees, Mark I
- Regan, Brigid M
- Ren, Zhong
- Scheffer, Ingrid E
- Sills, Graeme J
- Thomas, Rhys H
- Wang, Quanli
- Abou-Khalil, Bassel
- Alldredge, Brian K
- Amrom, Dina
- Andermann, Eva
- Andermann, Frederick
- Bautista, Jocelyn F.
- Bluvstein, Judith
- Boro, Alex
- Cascino, Gregory D
- Consalvo, Damian
- Crumrine, Patricia
- Devinsky, Orrin
- Fiol, Miguel
- Fountain, Nathan B
- French, Jacqueline
- Friedman, Daniel
- Geller, Eric B
- Glauser, Tracy
- Glynn, Simon
- Haas, Kevin
- Haut, Sheryl R
- Hayward, Jean
- Helmers, Sandra L
- Joshi, Sucheta
- Kanner, Andres
- Kirsch, Heidi E
- Knowlton, Robert C
- Kossoff, Eric H
- Kuperman, Rachel
- Motika, Paul V
- Novotny, Edward J
- Paolicchi, Juliann M
- Parent, Jack M
- Park, Kristen
- Sadleir, Lynette G
- Shellhaas, Renée A.
- Sherr, Elliott H
- Shih, Jerry J.
- Shinnar, Shlomo
- Singh, Rani K
- Sirven, Joseph
- Smith, Michael C
- Sullivan, Joseph
- Thio, Liu Lin
- Venkat, Anu
- Vining, Eileen P.G
- Von Allmen, Gretchen K
- Weisenberg, Judith L
- Widdess-Walsh, Peter
- Winawer, Melodie R
2017
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Brain (London, England : 1878), 2019-11, Vol.142 (11), p.3473-3481
2019
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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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Neurology, 2017-09, Vol.89 (12), p.1210-1219
- Zhang, Yue-Hua
- Burgess, Rosemary
- Malone, Jodie P
- Glubb, Georgie C
- Helbig, Katherine L
- Vadlamudi, Lata
- Kivity, Sara
- Afawi, Zaid
- Bleasel, Andrew
- Grattan-Smith, Padraic
- Grinton, Bronwyn E
- Bellows, Susannah T
- Vears, Danya F
- Damiano, John A
- Goldberg-Stern, Hadassa
- Korczyn, Amos D
- Dibbens, Leanne M
- Ruzzo, Elizabeth K
- Hildebrand, Michael S
- Berkovic, Samuel F
- Scheffer, Ingrid E
2017
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Brain (London, England : 1878), 2022-04, Vol.145 (2), p.555-568
- Skotte, Line
- Fadista, João
- Bybjerg-Grauholm, Jonas
- Appadurai, Vivek
- Hildebrand, Michael S
- Hansen, Thomas F
- Banasik, Karina
- Grove, Jakob
- Albiñana, Clara
- Geller, Frank
- Bjurström, Carmen F
- Vilhjálmsson, Bjarni J
- Coleman, Matthew
- Damiano, John A
- Burgess, Rosemary
- Scheffer, Ingrid E
- Pedersen, Ole Birger Vesterager
- Erikstrup, Christian
- Westergaard, David
- Nielsen, Kaspar René
- Sørensen, Erik
- Bruun, Mie Topholm
- Liu, Xueping
- Hjalgrim, Henrik
- Pers, Tune H
- Mortensen, Preben Bo
- Mors, Ole
- Nordentoft, Merete
- Dreier, Julie W
- Børglum, Anders D
- Christensen, Jakob
- Hougaard, David M
- Buil, Alfonso
- Hviid, Anders
- Melbye, Mads
- Ullum, Henrik
- Berkovic, Samuel F
- Werge, Thomas
- Feenstra, Bjarke
2022
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Brain (London, England : 1878), 2020-07, Vol.143 (7), p.2106-2118
2020
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Journal of paediatrics and child health, 2024-06, Vol.60 (9), p.409-414
2024
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Epilepsia (Copenhagen), 2017-02, Vol.58 (2), p.e26-e30
2017
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Epilepsia (Copenhagen), 2019-05, Vol.60 (5), p.797-806
- Berkovic, Samuel F.
- Goldstein, David B.
- Heinzen, Erin L.
- Laughlin, Brandon L.
- Lowenstein, Daniel H.
- Lubbers, Laura
- Stewart, Randall
- Whittemore, Vicky
- Angione, Kaitlin
- Bazil, Carl W.
- Bier, Louise
- Bluvstein, Judith
- Brimble, Elise
- Campbell, Colleen
- Cavalleri, Gianpiero
- Chambers, Chelsea
- Choi, Hyunmi
- Cilio, Maria Roberta
- Ciliberto, Michael
- Cornes, Susannah
- Delanty, Norman
- Demarest, Scott
- Devinsky, Orrin
- Dlugos, Dennis
- Dubbs, Holly
- Dugan, Patricia
- Ernst, Michelle E.
- Gibbons, Melissa
- Goodkin, Howard P.
- Helbig, Ingo
- Jansen, Laura
- Johnson, Kaleas
- Joshi, Charuta
- Lippa, Natalie C.
- Marsh, Eric
- Martinez, Alejandro
- Millichap, John
- Mulhern, Maureen S.
- Numis, Adam
- Park, Kristen
- Pippucci, Tommaso
- Poduri, Annapurna
- Porter, Brenda
- Regan, Brigid
- Sands, Tristan T.
- Scheffer, Ingrid E.
- Schreiber, John M.
- Sheidley, Beth
- Singhal, Nilika
- Smith, Lacey
- Sullivan, Joseph
- Taylor, Alan
- Tolete, Patricia
- Afgani, Tahseen M.
- Aggarwal, Vimla
- Burgess, Rosemary
- Dixon‐Salazar, Tracy
- Hemati, Parisa
- Milder, Julie
- Petrovski, Slavé
- Revah‐Politi, Anya
- Stong, Nicholas
2019
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Annals of neurology, 2020-02, Vol.87 (2), p.281-288
2020
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Radiology, 2016-12, Vol.281 (3), p.896-906
2016
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American journal of human genetics, 2016-08, Vol.99 (2), p.423-429
- Hildebrand, Michael S.
- Griffin, Nicole G.
- Damiano, John A.
- Cops, Elisa J.
- Burgess, Rosemary
- Ozturk, Ezgi
- Jones, Nigel C.
- Leventer, Richard J.
- Freeman, Jeremy L.
- Harvey, A. Simon
- Sadleir, Lynette G.
- Scheffer, Ingrid E.
- Major, Heather
- Darbro, Benjamin W.
- Allen, Andrew S.
- Goldstein, David B.
- Kerrigan, John F.
- Berkovic, Samuel F.
- Heinzen, Erin L.
2016
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Epilepsia (Copenhagen), 2022-03, Vol.63 (3), p.723-735
- Stanley, Kate E.
- Bobbili, Dheeraj R.
- Dhindsa, Ryan S.
- May, Patrick
- Alldredge, Brian K.
- Allen, Andrew S.
- Altmüller, Janine
- Amrom, Dina
- Andermann, Eva
- Auce, Pauls
- Avbersek, Andreja
- Bautista, Jocelyn F.
- Becker, Felicitas
- Bellows, Susannah T.
- Berghuis, Bianca
- Bluvstein, Judith
- Boro, Alex
- Burgess, Rosemary
- Caglayan, Hande
- Cascino, Gregory D.
- Chung, Seo‐Kyung
- Cieuta‐Walti, Cécile
- Consalvo, Damian
- Cossette, Patrick
- Crumrine, Patricia
- Delanty, Norman
- Depondt, Chantal
- Desbiens, Richard
- Dlugos, Dennis
- Epstein, Michael P.
- Everett, Kate
- Fountain, Nathan B.
- Francis, Ben
- French, Jacqueline
- Friedman, Daniel
- Geller, Eric B.
- Girard, Simon
- Glauser, Tracy
- Glynn, Simon
- Gravel, Micheline
- Haas, Kevin
- Haut, Sheryl R.
- Heinzen, Erin L.
- Helbig, Ingo
- Hildebrand, Michael S.
- Jorgensen, Andrea
- Joshi, Sucheta
- Kirsch, Heidi E.
- Knowlton, Robert C.
- Koeleman, Bobby P. C.
- Kossoff, Eric H.
- Krause, Roland
- Kunz, Wolfram S.
- Langley, Sarah R.
- LeGuern, Eric
- Lerche, Holger
- Leu, Costin
- Lortie, Anne
- Marson, Anthony G.
- Mebane, Caroline
- Mefford, Heather C.
- Meloche, Caroline
- Motika, Paul V.
- Muhle, Hiltrud
- Nabbout, Rima
- Nguyen, Dang K.
- Nikanorova, Marina
- Novotny, Edward J.
- Ottman, Ruth
- O’Brien, Terence J.
- Paolicchi, Juliann M.
- Parent, Jack M.
- Peter, Sarah
- Petrou, Steven
- Pickrell, William O.
- Poduri, Annapurna
- Radtke, Rodney A.
- Rees, Mark I.
- Regan, Brigid M.
- Sadleir, Lynette G.
- Sander, Josemir W.
- Sander, Thomas
- Scheffer, Ingrid E.
- Singh, Rani K.
- Sirven, Joseph
- Sisodiya, Sanjay M.
- Smith, Michael C.
- Sonsma, Anja C. M.
- Sullivan, Joseph
- Thio, Liu Lin
- Thomas, Rhys H.
- Venkat, Anu
- Von Allmen, Gretchen K.
- Wang, Quanli
- Weber, Yvonne G.
- Weckhuysen, Sarah
- Widdess‐Walsh, Peter
- Winawer, Melodie R.
- Wolking, Stefan
- Zimprich, Fritz
2022
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Human mutation, 2018-02, Vol.39 (2), p.202-209
- Li, Melody
- Maljevic, Snezana
- Phillips, A. Marie
- Petrovski, Slave
- Hildebrand, Michael S.
- Burgess, Rosemary
- Mount, Therese
- Zara, Federico
- Striano, Pasquale
- Schubert, Julian
- Thiele, Holger
- Nürnberg, Peter
- Wong, Michael
- Weisenberg, Judith L.
- Thio, Liu Lin
- Lerche, Holger
- Scheffer, Ingrid E.
- Berkovic, Samuel F.
- Petrou, Steven
- Reid, Christopher A.
2018
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The Journal of immunology (1950), 2013-07, Vol.191 (1), p.424-433
2013
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