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Epilepsia (Copenhagen), 2019-08, Vol.60 (8), p.1733-1742
2019
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Pediatric neurology, 2019-08, Vol.97, p.18-25
2019
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American journal of human genetics, 2014-08, Vol.95 (2), p.218-226
2014
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Neurology, 2013-10, Vol.81 (14), p.1205
2013
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Muscle & nerve, 2018-04, Vol.57 (4), p.550-560
2018
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American journal of human genetics, 2013-12, Vol.93 (6), p.1108-1117
- Gupta, Vandana A.
- Ravenscroft, Gianina
- Shaheen, Ranad
- Todd, Emily J.
- Swanson, Lindsay C.
- Shiina, Masaaki
- Ogata, Kazuhiro
- Hsu, Cynthia
- Clarke, Nigel F.
- Darras, Basil T.
- Farrar, Michelle A.
- Hashem, Amal
- Manton, Nicholas D.
- Muntoni, Francesco
- North, Kathryn N.
- Sandaradura, Sarah A.
- Nishino, Ichizo
- Hayashi, Yukiko K.
- Sewry, Caroline A.
- Thompson, Elizabeth M.
- Yau, Kyle S.
- Brownstein, Catherine A.
- Yu, Timothy W.
- Allcock, Richard J.N.
- Davis, Mark R.
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Alkuraya, Fowzan S.
- Laing, Nigel G.
- Beggs, Alan H.
2013
Link zum Volltext
Annals of neurology, 2018-06, Vol.83 (6), p.1105-1124
- Oates, Emily C.
- Jones, Kristi J.
- Donkervoort, Sandra
- Charlton, Amanda
- Brammah, Susan
- Smith, John E.
- Ware, James S.
- Yau, Kyle S.
- Swanson, Lindsay C.
- Whiffin, Nicola
- Peduto, Anthony J.
- Bournazos, Adam
- Waddell, Leigh B.
- Farrar, Michelle A.
- Sampaio, Hugo A.
- Teoh, Hooi Ling
- Lamont, Phillipa J.
- Mowat, David
- Fitzsimons, Robin B.
- Corbett, Alastair J.
- Ryan, Monique M.
- O'Grady, Gina L.
- Sandaradura, Sarah A.
- Ghaoui, Roula
- Joshi, Himanshu
- Marshall, Jamie L.
- Nolan, Melinda A.
- Kaur, Simranpreet
- Punetha, Jaya
- Töpf, Ana
- Harris, Elizabeth
- Bakshi, Madhura
- Genetti, Casie A.
- Marttila, Minttu
- Werlauff, Ulla
- Streichenberger, Nathalie
- Pestronk, Alan
- Mazanti, Ingrid
- Pinner, Jason R.
- Vuillerot, Carole
- Grosmann, Carla
- Camacho, Ana
- Mohassel, Payam
- Leach, Meganne E.
- Foley, A. Reghan
- Bharucha‐Goebel, Diana
- Collins, James
- Connolly, Anne M.
- Gilbreath, Heather R.
- Iannaccone, Susan T.
- Castro, Diana
- Cummings, Beryl B.
- Webster, Richard I.
- Lazaro, Leïla
- Vissing, John
- Coppens, Sandra
- Deconinck, Nicolas
- Luk, Ho‐Ming
- Thomas, Neil H.
- Foulds, Nicola C.
- Illingworth, Marjorie A.
- Ellard, Sian
- McLean, Catriona A.
- Phadke, Rahul
- Ravenscroft, Gianina
- Witting, Nanna
- Hackman, Peter
- Richard, Isabelle
- Cooper, Sandra T.
- Kamsteeg, Erik‐Jan
- Hoffman, Eric P.
- Bushby, Kate
- Straub, Volker
- Udd, Bjarne
- Ferreiro, Ana
- North, Kathryn N.
- Clarke, Nigel F.
- Lek, Monkol
- Beggs, Alan H.
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Granzier, Henk
- Davis, Mark R.
- Laing, Nigel G.
2018
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Annals of neurology, 2021-04, Vol.89 (4), p.790-802
2021
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Human mutation, 2020-07, Vol.41 (7), p.1238-1249
2020
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Developmental medicine and child neurology, 2021-11, Vol.63 (11), p.1308-1315
2021
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Journal of neurodevelopmental disorders, 2023-03, Vol.15 (1), p.10-10, Article 10
2023
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Stem cell research, 2021-05, Vol.53, p.102276-102276, Article 102276
2021
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The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2014
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Pediatric neurology, 2023-01, Vol.138, p.71-80
2023
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Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.40-40, Article 40
- Olson, Heather E
- Daniels, Carolyn I
- Haviland, Isabel
- Swanson, Lindsay C
- Greene, Caitlin A
- Denny, Anne Marie M
- Demarest, Scott T
- Pestana-Knight, Elia
- Zhang, Xiaoming
- Moosa, Ahsan N
- Fidell, Andrea
- Weisenberg, Judith L
- Suter, Bernhard
- Fu, Cary
- Neul, Jeffrey L
- Percy, Alan K
- Marsh, Eric D
- Benke, Timothy A
- Poduri, Annapurna
2021
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Frontiers in neuroscience, 2022-05, Vol.16, p.868008-868008
2022
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American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3516-3524
- Keehan, Laura
- Haviland, Isabel
- Gofin, Yoel
- Swanson, Lindsay C.
- El Achkar, Christelle Moufawad
- Schreiber, John
- VanNoy, Grace E.
- O'Heir, Emily
- O'Donnell‐Luria, Anne
- Lewis, Richard Alan
- Magoulas, Pilar
- Tran, Alyssa
- Azamian, Mahshid S.
- Chao, Hsiao‐Tuan
- Pham, Lisa
- Samaco, Rodney C.
- Elsea, Sarah
- Thorpe, Erin
- Kesari, Akanchha
- Perry, Denise
- Lee, Brendan
- Lalani, Seema R.
- Rosenfeld, Jill A.
- Olson, Heather E.
- Burrage, Lindsay C.
2022
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Brain sciences, 2021-07, Vol.11 (7), p.931
2021
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Journal of visualized experiments, 2014-07 (89)
2014
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American journal of human genetics, 2013-07, Vol.93 (1), p.6-18
- Ravenscroft, Gianina
- Miyatake, Satoko
- Lehtokari, Vilma-Lotta
- Todd, Emily J.
- Vornanen, Pauliina
- Yau, Kyle S.
- Hayashi, Yukiko K.
- Miyake, Noriko
- Tsurusaki, Yoshinori
- Doi, Hiroshi
- Saitsu, Hirotomo
- Osaka, Hitoshi
- Yamashita, Sumimasa
- Ohya, Takashi
- Sakamoto, Yuko
- Koshimizu, Eriko
- Imamura, Shintaro
- Yamashita, Michiaki
- Ogata, Kazuhiro
- Shiina, Masaaki
- Bryson-Richardson, Robert J.
- Vaz, Raquel
- Ceyhan, Ozge
- Brownstein, Catherine A.
- Swanson, Lindsay C.
- Monnot, Sophie
- Romero, Norma B.
- Amthor, Helge
- Kresoje, Nina
- Sivadorai, Padma
- Kiraly-Borri, Cathy
- Haliloglu, Goknur
- Talim, Beril
- Orhan, Diclehan
- Kale, Gulsev
- Charles, Adrian K.
- Fabian, Victoria A.
- Davis, Mark R.
- Lammens, Martin
- Sewry, Caroline A.
- Manzur, Adnan
- Muntoni, Francesco
- Clarke, Nigel F.
- North, Kathryn N.
- Bertini, Enrico
- Nevo, Yoram
- Willichowski, Ekkhard
- Silberg, Inger E.
- Topaloglu, Haluk
- Beggs, Alan H.
- Allcock, Richard J.N.
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Laing, Nigel G.
2013
Link zum Volltext
Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.573-578
2020
Link zum Volltext
iScience, 2022-09, Vol.25 (9), p.104966-104966, Article 104966
2022
Link zum Volltext
Annals of clinical and translational neurology, 2018-03, Vol.5 (3), p.323-332
- O'Leary, Heather M.
- Kaufmann, Walter E.
- Barnes, Katherine V.
- Rakesh, Kshitiz
- Kapur, Kush
- Tarquinio, Daniel C.
- Cantwell, Nicole G.
- Roche, Katherine J.
- Rose, Suzanne A.
- Walco, Alexandra C.
- Bruck, Natalie M.
- Bazin, Grace A.
- Holm, Ingrid A.
- Alexander, Mark E.
- Swanson, Lindsay C.
- Baczewski, Lauren M.
- Mayor Torres, Juan M.
- Nelson, Charles A.
- Sahin, Mustafa
2018
Link zum Volltext
Annals of clinical and translational neurology, 2022-02, Vol.9 (2), p.193-205
- Chopra, Maya
- Gable, Dustin L.
- Love‐Nichols, Jamie
- Tsao, Alexa
- Rockowitz, Shira
- Sliz, Piotr
- Barkoudah, Elizabeth
- Bastianelli, Lucia
- Coulter, David
- Davidson, Emily
- DeGusmao, Claudio
- Fogelman, David
- Huth, Kathleen
- Marshall, Paige
- Nimec, Donna
- Sanders, Jessica Solomon
- Shore, Benjamin J.
- Snyder, Brian
- Stone, Scellig S. D.
- Ubeda, Ana
- Watkins, Colyn
- Berde, Charles
- Bolton, Jeffrey
- Brownstein, Catherine
- Costigan, Michael
- Ebrahimi‐Fakhari, Darius
- Lai, Abbe
- O'Donnell‐Luria, Anne
- Paciorkowski, Alex R.
- Pinto, Anna
- Pugh, John
- Rodan, Lance
- Roe, Eugene
- Swanson, Lindsay
- Zhang, Bo
- Kruer, Michael C.
- Sahin, Mustafa
- Poduri, Annapurna
- Srivastava, Siddharth
2022
Link zum Volltext
The Journal of clinical investigation, 2015-01, Vol.125 (1), p.456-457
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2015
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