Sortiert nach
Annals of neurology, 2016-04, Vol.79 (4), p.522-534
2016
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.973-978
2020
Volltextzugriff (PDF)
JAMA neurology, 2017-11, Vol.74 (11), p.1301
2017
Volltextzugriff (PDF)
Annals of neurology, 2014-05, Vol.75 (5), p.782-787
2014
Volltextzugriff (PDF)
Nature genetics, 2013-09, Vol.45 (9), p.1073-1076
- Carvill, Gemma L
- Regan, Brigid M
- Yendle, Simone C
- O'Roak, Brian J
- Lozovaya, Natalia
- Bruneau, Nadine
- Burnashev, Nail
- Khan, Adiba
- Cook, Joseph
- Geraghty, Eileen
- Sadleir, Lynette G
- Turner, Samantha J
- Tsai, Meng-Han
- Webster, Richard
- Ouvrier, Robert
- Damiano, John A
- Berkovic, Samuel F
- Shendure, Jay
- Hildebrand, Michael S
- Szepetowski, Pierre
- Scheffer, Ingrid E
- Mefford, Heather C
2013
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
Nature genetics, 2013-05, Vol.45 (5), p.546-551
- Dibbens, Leanne M
- de Vries, Boukje
- Donatello, Simona
- Heron, Sarah E
- Hodgson, Bree L
- Chintawar, Satyan
- Crompton, Douglas E
- Hughes, James N
- Bellows, Susannah T
- Klein, Karl Martin
- Callenbach, Petra M C
- Corbett, Mark A
- Gardner, Alison E
- Kivity, Sara
- Iona, Xenia
- Regan, Brigid M
- Weller, Claudia M
- Crimmins, Denis
- O'Brien, Terence J
- Guerrero-López, Rosa
- Mulley, John C
- Dubeau, Francois
- Licchetta, Laura
- Bisulli, Francesca
- Cossette, Patrick
- Thomas, Paul Q
- Gecz, Jozef
- Serratosa, Jose
- Brouwer, Oebele F
- Andermann, Frederick
- Andermann, Eva
- van den Maagdenberg, Arn M J M
- Pandolfo, Massimo
- Berkovic, Samuel F
- Scheffer, Ingrid E
2013
Volltextzugriff (PDF)
Epilepsy research, 2017-03, Vol.131, p.1-8
2017
Volltextzugriff (PDF)
Human mutation, 2019-07, Vol.40 (7), p.908-925, Article humu.23731
- Ng, Bobby G.
- Sosicka, Paulina
- Agadi, Satish
- Almannai, Mohammed
- Bacino, Carlos A.
- Barone, Rita
- Botto, Lorenzo D.
- Burton, Jennifer E.
- Carlston, Colleen
- Chung, Brian Hon‐Yin
- Cohen, Julie S.
- Coman, David
- Dipple, Katrina M.
- Dorrani, Naghmeh
- Dobyns, William B.
- Elias, Abdallah F.
- Epstein, Leon
- Gahl, William A.
- Garozzo, Domenico
- Hammer, Trine Bjørg
- Haven, Jaclyn
- Héron, Delphine
- Herzog, Matthew
- Hoganson, George E.
- Hunter, Jesse M.
- Jain, Mahim
- Juusola, Jane
- Lakhani, Shenela
- Lee, Hane
- Lee, Joy
- Lewis, Katherine
- Longo, Nicola
- Lourenço, Charles Marques
- Mak, Christopher C.Y.
- McKnight, Dianalee
- Mendelsohn, Bryce A.
- Mignot, Cyril
- Mirzaa, Ghayda
- Mitchell, Wendy
- Muhle, Hiltrud
- Nelson, Stanley F.
- Olczak, Mariusz
- Palmer, Christina G.S.
- Partikian, Arthur
- Patterson, Marc C.
- Pierson, Tyler M.
- Quinonez, Shane C.
- Regan, Brigid M.
- Ross, M. Elizabeth
- Guillen Sacoto, Maria J.
- Scaglia, Fernando
- Scheffer, Ingrid E.
- Segal, Devorah
- Singhal, Nilika Shah
- Striano, Pasquale
- Sturiale, Luisa
- Symonds, Joseph D.
- Tang, Sha
- Vilain, Eric
- Willis, Mary
- Wolfe, Lynne A.
- Yang, Hui
- Yano, Shoji
- Powis, Zöe
- Suchy, Sharon F.
- Rosenfeld, Jill A.
- Edmondson, Andrew C.
- Grunewald, Stephanie
- Freeze, Hudson H.
2019
Volltextzugriff (PDF)
Epilepsia (Copenhagen), 2024-04, Vol.65 (4), p.1046-1059
- Gallagher, Declan
- Pérez‐Palma, Eduardo
- Bruenger, Tobias
- Ghanty, Ismael
- Brilstra, Eva
- Ceulemans, Berten
- Chemaly, Nicole
- 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
- Zuberi, Sameer M.
- Lal, Dennis
- Brunklaus, Andreas
2024
Volltextzugriff (PDF)
Nature communications, 2019-10, Vol.10 (1), p.4679-17, Article 4679
- Guo, Hui
- Bettella, Elisa
- Marcogliese, Paul C
- Zhao, Rongjuan
- Andrews, Jonathan C
- Nowakowski, Tomasz J
- Gillentine, Madelyn A
- Hoekzema, Kendra
- Wang, Tianyun
- Wu, Huidan
- Jangam, Sharayu
- Liu, Cenying
- Ni, Hailun
- Willemsen, Marjolein H
- van Bon, Bregje W
- Rinne, Tuula
- Stevens, Servi J C
- Kleefstra, Tjitske
- Brunner, Han G
- Yntema, Helger G
- Long, Min
- Zhao, Wenjing
- Hu, Zhengmao
- Colson, Cindy
- Richard, Nicolas
- Schwartz, Charles E
- Romano, Corrado
- Castiglia, Lucia
- Bottitta, Maria
- Dhar, Shweta U
- Erwin, Deanna J
- Emrick, Lisa
- Keren, Boris
- Afenjar, Alexandra
- Zhu, Baosheng
- Bai, Bing
- Stankiewicz, Pawel
- Herman, Kristin
- Mercimek-Andrews, Saadet
- Juusola, Jane
- Wilfert, Amy B
- Abou Jamra, Rami
- Büttner, Benjamin
- Mefford, Heather C
- Muir, Alison M
- Scheffer, Ingrid E
- Regan, Brigid M
- Malone, Stephen
- Gecz, Jozef
- Cobben, Jan
- Weiss, Marjan M
- Waisfisz, Quinten
- Bijlsma, Emilia K
- Hoffer, Mariëtte J V
- Ruivenkamp, Claudia A L
- Sartori, Stefano
- Xia, Fan
- Rosenfeld, Jill A
- Bernier, Raphael A
- Wangler, Michael F
- Yamamoto, Shinya
- Xia, Kun
- Stegmann, Alexander P A
- Bellen, Hugo J
- Murgia, Alessandra
- Eichler, Evan E
2019
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3432-3447
- Fennell, Andrew Paul
- Baxter, Anne Elizabeth
- Berkovic, Samuel Frank
- Ellaway, Carolyn Jane
- Forwood, Caitlin
- Hildebrand, Michael Stephen
- Kumble, Smitha
- McKeown, Colina
- Mowat, David
- Poke, Gemma
- Rajagopalan, Sulekha
- Regan, Brigid M.
- Scheffer, Ingrid Eileen
- Stark, Zornitza
- Stutterd, Chloe Alice
- Tan, Tiong Yang
- Wilkins, Ella Jane
- Yeung, Alison
- Hunter, Matthew Frank
2022
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.973-978
2020
Volltextzugriff (PDF)
American journal of human genetics, 2017-10, Vol.101 (4), p.516-524
- Myers, Candace T.
- Stong, Nicholas
- Mountier, Emily I.
- Helbig, Katherine L.
- Freytag, Saskia
- Sullivan, Joseph E.
- Ben Zeev, Bruria
- Nissenkorn, Andreea
- Tzadok, Michal
- Heimer, Gali
- Shinde, Deepali N.
- Rezazadeh, Arezoo
- Regan, Brigid M.
- Oliver, Karen L.
- Ernst, Michelle E.
- Lippa, Natalie C.
- Mulhern, Maureen S.
- Ren, Zhong
- Poduri, Annapurna
- Andrade, Danielle M.
- Bird, Lynne M.
- Bahlo, Melanie
- Berkovic, Samuel F.
- Lowenstein, Daniel H.
- Scheffer, Ingrid E.
- Sadleir, Lynette G.
- Goldstein, David B.
- Mefford, Heather C.
- Heinzen, Erin L.
2017
Volltextzugriff (PDF)
Neurology, 2021-05, Vol.96 (18), p.e2251
- Heron, Sarah E
- Regan, Brigid M
- Harris, Rebekah V
- Gardner, Alison E
- Coleman, Matthew J
- Bennett, Mark F
- Grinton, Bronwyn E
- Helbig, Katherine L
- Sperling, Michael R
- Haut, Sheryl
- Geller, Eric B
- Widdess-Walsh, Peter
- Pelekanos, James T
- Bahlo, Melanie
- Petrovski, Slavé
- Heinzen, Erin L
- Hildebrand, Michael S
- Corbett, Mark A
- Scheffer, Ingrid E
- Gécz, Jozef
- Berkovic, Samuel F
2021
Volltextzugriff (PDF)
Neurology, 2016-04, Vol.86 (17), p.1605
2016
Volltextzugriff (PDF)
Human mutation, 2021-08, Vol.42 (8), p.1030-1041
- Pham, Duyen H.
- Pitman, Melissa R.
- Kumar, Raman
- Jolly, Lachlan A.
- Schulz, Renee
- Gardner, Alison E.
- Nys, Rebekah
- Heron, Sarah E.
- Corbett, Mark A.
- Kothur, Kavitha
- Gill, Deepak
- Rajagopalan, Sulekha
- Kolc, Kristy L.
- Halliday, Benjamin J.
- Robertson, Stephen P.
- Regan, Brigid M.
- Kirsch, Heidi E.
- Berkovic, Samuel F.
- Scheffer, Ingrid E.
- Pitson, Stuart M.
- Petrovski, Slave
- Gecz, Jozef
2021
Volltextzugriff (PDF)
Neurology, 2014-09, Vol.83 (11), p.1018
2014
Volltextzugriff (PDF)
Neurology. Genetics, 2015-08, Vol.1 (2), p.e17-e17
2015
Volltextzugriff (PDF)
Annals of clinical and translational neurology, 2015-08, Vol.2 (8), p.821-830
- Hildebrand, Michael S.
- Tankard, Rick
- Gazina, Elena V.
- Damiano, John A.
- Lawrence, Kate M.
- Dahl, Hans‐Henrik M.
- Regan, Brigid M.
- Shearer, Aiden Eliot
- Smith, Richard J. H.
- Marini, Carla
- Guerrini, Renzo
- Labate, Angelo
- Gambardella, Antonio
- Tinuper, Paolo
- Lichetta, Laura
- Baldassari, Sara
- Bisulli, Francesca
- Pippucci, Tommaso
- Scheffer, Ingrid E.
- Reid, Christopher A.
- Petrou, Steven
- Bahlo, Melanie
- Berkovic, Samuel F.
2015
Volltextzugriff (PDF)
Annals of neurology, 2016-01, Vol.79 (1), p.120-131
- Ricos, Michael G.
- Hodgson, Bree L.
- Pippucci, Tommaso
- Saidin, Akzam
- Ong, Yeh Sze
- Heron, Sarah E.
- Licchetta, Laura
- Bisulli, Francesca
- Bayly, Marta A.
- Hughes, James
- Baldassari, Sara
- Palombo, Flavia
- Santucci, Margherita
- Meletti, Stefano
- Berkovic, Samuel F.
- Rubboli, Guido
- Thomas, Paul Q.
- Scheffer, Ingrid E.
- Tinuper, Paolo
- Geoghegan, Joel
- Schreiber, Andreas W.
- Dibbens, Leanne M.
2016
Volltextzugriff (PDF)
American journal of human genetics, 2017-11, Vol.101 (5), p.664-685
- Myers, Candace T.
- Cossette, Patrick
- Lemay, Philippe
- Spiegelman, Dan
- Laporte, Alexandre Dionne
- Nassif, Christina
- Diallo, Ousmane
- Monlong, Jean
- Cadieux-Dion, Maxime
- Dobrzeniecka, Sylvia
- Meloche, Caroline
- Retterer, Kyle
- Cho, Megan T.
- Rosenfeld, Jill A.
- Bi, Weimin
- Massicotte, Christine
- Miguet, Marguerite
- Brunga, Ledia
- Regan, Brigid M.
- Mo, Kelly
- Tam, Cory
- Hollingsworth, Georgie
- FitzPatrick, David R.
- Canham, Natalie
- Blair, Edward
- Kerr, Bronwyn
- Fry, Andrew E.
- Thomas, Rhys H.
- Shelagh, Joss
- Hurst, Jane A.
- Brittain, Helen
- Blyth, Moira
- Lebel, Robert Roger
- Gerkes, Erica H.
- Davis-Keppen, Laura
- Stein, Quinn
- Dorison, Sara J.
- Benke, Paul J.
- Fassi, Emily
- Corsten-Janssen, Nicole
- Kamsteeg, Erik-Jan
- Mau-Them, Frederic T.
- Bruel, Ange-Line
- Verloes, Alain
- Õunap, Katrin
- Wojcik, Monica H.
- Albert, Dara V.F.
- Venkateswaran, Sunita
- Ware, Tyson
- Liu, Yu-Chi
- Mohammad, Shekeeb S.
- Bizargity, Peyman
- Bacino, Carlos A.
- Leuzzi, Vincenzo
- Martinelli, Simone
- Dallapiccola, Bruno
- Tartaglia, Marco
- Blumkin, Lubov
- Wierenga, Klaas J.
- Purcarin, Gabriela
- O’Byrne, James J.
- Stockler, Sylvia
- Lehman, Anna
- Keren, Boris
- Nougues, Marie-Christine
- Mignot, Cyril
- Auvin, Stéphane
- Nava, Caroline
- Hiatt, Susan M.
- Bebin, Martina
- Shao, Yunru
- Scaglia, Fernando
- Frye, Richard E.
- Jarjour, Imad T.
- Jacques, Stéphanie
- Boucher, Renee-Myriam
- Riou, Emilie
- Srour, Myriam
- Carmant, Lionel
- Lortie, Anne
- Major, Philippe
- Diadori, Paola
- Dubeau, François
- D’Anjou, Guy
- Bourque, Guillaume
- Berkovic, Samuel F.
- Sadleir, Lynette G.
- Campeau, Philippe M.
- Kibar, Zoha
- Lafrenière, Ronald G.
- Girard, Simon L.
- Mercimek-Mahmutoglu, Saadet
- Boelman, Cyrus
- Rouleau, Guy A.
- Scheffer, Ingrid E.
- Mefford, Heather C.
- Andrade, Danielle M.
- Rossignol, Elsa
- Minassian, Berge A.
- Michaud, Jacques L.
2017
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Sprache
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- MEDLINE
- Ingenta.com
- EZB Electronic Journals Library
- Ovid SocietyJournals and Single Titles
- Publisher or Other Site
- Wiley Online Library All Journals
- IngentaConnect Journals
- Wiley Online Library Full Collection 2018
- Nature Journals
- Elsevier ScienceDirect Journals Complete
- Nexis Uni
- Taylor & Francis Journals Complete
- Oxford Journals
- Oxford Journals 2020 Medicine
- Taylor & Francis Current Content Access
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Ebook Central Perpetual and DDA
- eBooks on EBSCOhost
- SpringerLink Series
- Access via Taylor & Francis
Zeitschrift / Serie
Neu hinzugefügt