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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...AJOG global reports, 2024-08, p.100392, Article 100392
2024
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Pregnancy hypertension, 2024-09, Vol.37, p.101152, Article 101152
2024
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Lancet neurology, 2016-03, Vol.15 (3), p.304-316
2016
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Epilepsia (Copenhagen), 2021-09, Vol.62 (9), p.2205-2217
2021
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Neurology, 2023-04, Vol.100 (16), p.e1712
2023
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Neurology, 2022-03, Vol.98 (11), p.e1163
- Brunklaus, Andreas
- Pérez-Palma, Eduardo
- Ghanty, Ismael
- Xinge, Ji
- Brilstra, Eva
- Ceulemans, Berten
- Chemaly, Nicole
- de Lange, Iris
- Depienne, Christel
- Guerrini, Renzo
- Mei, Davide
- Møller, Rikke S
- Nabbout, Rima
- Regan, Brigid M
- Schneider, Amy L
- Scheffer, Ingrid E
- Schoonjans, An-Sofie
- Symonds, Joseph D
- Weckhuysen, Sarah
- Kattan, Michael W
- Zuberi, Sameer M
- Lal, Dennis
2022
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American journal of human genetics, 2016-08, Vol.99 (2), p.287-298
- 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.
2016
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The New England journal of medicine, 2018-04, Vol.378 (17), p.1646-1648
2018
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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
- Brunklaus, Andreas
- Brünger, Tobias
- Feng, Tony
- Fons, Carmen
- Lehikoinen, Anni
- Panagiotakaki, Eleni
- Vintan, Mihaela-Adela
- Symonds, Joseph
- Andrew, James
- Arzimanoglou, Alexis
- Delima, Sarah
- Gallois, Julie
- Hanrahan, Donncha
- Lesca, Gaetan
- MacLeod, Stewart
- Marjanovic, Dragan
- McTague, Amy
- Nuñez-Enamorado, Noemi
- Perez-Palma, Eduardo
- Scott Perry, M
- Pysden, Karen
- Russ-Hall, Sophie J
- Scheffer, Ingrid E
- Sully, Krystal
- Syrbe, Steffen
- Vaher, Ulvi
- Velayutham, Murugan
- Vogt, Julie
- Weiss, Shelly
- Wirrell, Elaine
- Zuberi, Sameer M
- Lal, Dennis
- Møller, Rikke S
- Mantegazza, Massimo
- Cestèle, Sandrine
2022
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American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029
- Carvill, Gemma L.
- Engel, Krysta L.
- Ramamurthy, Aishwarya
- Cochran, J. Nicholas
- Roovers, Jolien
- Stamberger, Hannah
- Lim, Nicholas
- Schneider, Amy L.
- Hollingsworth, Georgie
- Holder, Dylan H.
- Regan, Brigid M.
- Lawlor, James
- Lagae, Lieven
- Ceulemans, Berten
- Bebin, E. Martina
- Nguyen, John
- Striano, Pasquale
- Zara, Federico
- Helbig, Ingo
- Møller, Rikke S.
- von Spiczak, Sarah
- Muhle, Hiltrud
- Caglayan, Hande
- Sterbova, Katalin
- Craiu, Dana
- Hoffman, Dorota
- Lehesjoki, Anna-Elina
- Selmer, Kaja
- Depienne, Christel
- Lemke, Johannes
- Marini, Carla
- Guerrini, Renzo
- Neubauer, Bernd
- Talvik, Tiina
- Leguern, Eric
- de Jonghe, Peter
- Weckhuysen, Sarah
- Barsh, Gregory S.
- Meisler, Miriam
- Berkovic, Samuel F.
- De Jonghe, Peter
- Scheffer, Ingrid E.
- Myers, Richard M.
- Cooper, Gregory M.
- Mefford, Heather C.
2018
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Annals of neurology, 2019-12, Vol.86 (6), p.821-831
2019
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American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010
- Petrovski, Slavé
- Küry, Sébastien
- Myers, Candace T.
- Anyane-Yeboa, Kwame
- Cogné, Benjamin
- Bialer, Martin
- Xia, Fan
- Hemati, Parisa
- Riviello, James
- Mehaffey, Michele
- Besnard, Thomas
- Becraft, Emily
- Wadley, Alexandrea
- Politi, Anya Revah
- Colombo, Sophie
- Zhu, Xiaolin
- Ren, Zhong
- Andrews, Ian
- Dudding-Byth, Tracy
- Schneider, Amy L.
- Wallace, Geoffrey
- Rosen, Aaron B.I.
- Schelley, Susan
- Enns, Gregory M.
- Corre, Pierre
- Dalton, Joline
- Mercier, Sandra
- Latypova, Xénia
- Schmitt, Sébastien
- Guzman, Edwin
- Moore, Christine
- Bier, Louise
- Heinzen, Erin L.
- Karachunski, Peter
- Shur, Natasha
- Grebe, Theresa
- Basinger, Alice
- Nguyen, Joanne M.
- Bézieau, Stéphane
- Wierenga, Klaas
- Bernstein, Jonathan A.
- Scheffer, Ingrid E.
- Rosenfeld, Jill A.
- Mefford, Heather C.
- Isidor, Bertrand
- Goldstein, David B.
2016
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Epilepsy & behavior, 2020-11, Vol.112, p.107319-107319, Article 107319
2020
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American journal of human genetics, 2015-05, Vol.96 (5), p.808-815
- 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.
2015
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Epilepsy research, 2016-12, Vol.128, p.43-47
2016
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Journal of medical genetics, 2017-07, Vol.54 (7), p.460-470
- Platzer, Konrad
- Yuan, Hongjie
- Schütz, Hannah
- Winschel, Alexander
- Chen, Wenjuan
- Hu, Chun
- Kusumoto, Hirofumi
- Heyne, Henrike O
- Helbig, Katherine L
- Tang, Sha
- Willing, Marcia C
- Tinkle, Brad T
- Adams, Darius J
- Depienne, Christel
- Keren, Boris
- Mignot, Cyril
- Frengen, Eirik
- Strømme, Petter
- Biskup, Saskia
- Döcker, Dennis
- Strom, Tim M
- Mefford, Heather C
- Myers, Candace T
- Muir, Alison M
- LaCroix, Amy
- Sadleir, Lynette
- Scheffer, Ingrid E
- Brilstra, Eva
- van Haelst, Mieke M
- van der Smagt, Jasper J
- Bok, Levinus A
- Møller, Rikke S
- Jensen, Uffe B
- Millichap, John J
- Berg, Anne T
- Goldberg, Ethan M
- De Bie, Isabelle
- Fox, Stephanie
- Major, Philippe
- Jones, Julie R
- Zackai, Elaine H
- Abou Jamra, Rami
- Rolfs, Arndt
- Leventer, Richard J
- Lawson, John A
- Roscioli, Tony
- Jansen, Floor E
- Ranza, Emmanuelle
- Korff, Christian M
- Lehesjoki, Anna-Elina
- Courage, Carolina
- Linnankivi, Tarja
- Smith, Douglas R
- Stanley, Christine
- Mintz, Mark
- McKnight, Dianalee
- Decker, Amy
- Tan, Wen-Hann
- Tarnopolsky, Mark A
- Brady, Lauren I
- Wolff, Markus
- Dondit, Lutz
- Pedro, Helio F
- Parisotto, Sarah E
- Jones, Kelly L
- Patel, Anup D
- Franz, David N
- Vanzo, Rena
- Marco, Elysa
- Ranells, Judith D
- Di Donato, Nataliya
- Dobyns, William B
- Laube, Bodo
- Traynelis, Stephen F
- Lemke, Johannes R
2017
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Developmental medicine and child neurology, 2019-10, Vol.61 (10), p.1229-1236
2019
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European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.973-978
2020
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Taiwan journal of ophthalmology, 2020-01, Vol.10 (1), p.3-12
2020
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Brain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1578-1591
- MCTAGUE, Amy
- APPLETON, Richard
- FARRELL, Michael A
- HUGHES, Elaine
- JEFFERSON, Rosalind
- LASCELLES, Karine
- LIVINGSTON, John
- MEYER, Esther
- MCLELLAN, Ailsa
- PODURI, Annapurna
- SCHEFFER, Ingrid E
- SPINTY, Stefan
- AVULA, Shivaram
- KURIAN, Manju A
- KNEEN, Rachel
- CROSS, J. Helen
- KING, Mary D
- JACQUES, Thomas S
- BHATE, Sanjay
- CRONIN, Anthony
- CURRAN, Andrew
- DESURKAR, Archana
2013
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Developmental medicine and child neurology, 2018-02, Vol.60 (2), p.192-198
2018
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Annals of neurology, 2024-08
- 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
2024
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A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
2018
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Nature communications, 2015-09, Vol.6 (1), p.8038-8038, Article 8038
- Stödberg, Tommy
- McTague, Amy
- Ruiz, Arnaud J
- Hirata, Hiromi
- Zhen, Juan
- Long, Philip
- Farabella, Irene
- Meyer, Esther
- Kawahara, Atsuo
- Vassallo, Grace
- Stivaros, Stavros M
- Bjursell, Magnus K
- Stranneheim, Henrik
- Tigerschiöld, Stephanie
- Persson, Bengt
- Bangash, Iftikhar
- Das, Krishna
- Hughes, Deborah
- Lesko, Nicole
- Lundeberg, Joakim
- Scott, Rod C
- Poduri, Annapurna
- Scheffer, Ingrid E
- Smith, Holly
- Gissen, Paul
- Schorge, Stephanie
- Reith, Maarten E A
- Topf, Maya
- Kullmann, Dimitri M
- Harvey, Robert J
- Wedell, Anna
- Kurian, Manju A
2015
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Epilepsia (Copenhagen), 2021-02, Vol.62 (2), p.358-370
- Howell, Katherine B.
- Freeman, Jeremy L.
- Mackay, Mark T.
- Fahey, Michael C.
- Archer, John
- Berkovic, Samuel F.
- Chan, Eunice
- Dabscheck, Gabriel
- Eggers, Stefanie
- Hayman, Michael
- Holberton, James
- Hunt, Rodney W.
- Jacobs, Susan E.
- Kornberg, Andrew J.
- Leventer, Richard J.
- Mandelstam, Simone
- McMahon, Jacinta M.
- Mefford, Heather C.
- Panetta, Julie
- Riseley, Jessica
- Rodriguez‐Casero, Victoria
- Ryan, Monique M.
- Schneider, Amy L.
- Smith, Lindsay J.
- Stark, Zornitza
- Wong, Flora
- Yiu, Eppie M.
- Scheffer, Ingrid E.
- Harvey, A. Simon
2021
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