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Epileptic disorders, 2021-12, Vol.23 (6), p.865-874
2021
Link zum Volltext
Epileptic disorders, 2024-04, Vol.26 (2), p.219-224
2024
Link zum Volltext
Clinical genetics, 2021-10, Vol.100 (4), p.412-429
- Oates, Stephanie
- Absoud, Michael
- Goyal, Sushma
- Bayley, Sophie
- Baulcomb, Jennifer
- Sims, Annemarie
- Riddett, Amy
- Allis, Katrina
- Brasch‐Andersen, Charlotte
- Balasubramanian, Meena
- Bai, Renkui
- Callewaert, Bert
- Hüffmeier, Ulrike
- Le Duc, Diana
- Radtke, Maximilian
- Korff, Christian
- Kennedy, Joanna
- Low, Karen
- Møller, Rikke S.
- Nielsen, Jens Erik Klint
- Popp, Bernt
- Quteineh, Lina
- Rønde, Gitte
- Schönewolf‐Greulich, Bitten
- Shillington, Amelle
- Taylor, Matthew RG
- Todd, Emily
- Torring, Pernille M.
- Tümer, Zeynep
- Vasileiou, Georgia
- Yates, T. Michael
- Zweier, Christiane
- Rosch, Richard
- Basson, M. Albert
- Pal, Deb K.
2021
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Journal of medical case reports, 2022-01, Vol.16 (1), p.32-32, Article 32
2022
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Neurology, 2015-02, Vol.84 (5), p.480
- Larsen, Jan
- Carvill, Gemma L
- Gardella, Elena
- Kluger, Gerhard
- Schmiedel, Gudrun
- Barisic, Nina
- Depienne, Christel
- Brilstra, Eva
- Mang, Yuan
- Nielsen, Jens Erik Klint
- Kirkpatrick, Martin
- Goudie, David
- Goldman, Rebecca
- Jähn, Johanna A
- Jepsen, Birgit
- Gill, Deepak
- Döcker, Miriam
- Biskup, Saskia
- McMahon, Jacinta M
- Koeleman, Bobby
- Harris, Mandy
- Braun, Kees
- de Kovel, Carolien G F
- Marini, Carla
- Specchio, Nicola
- Djémié, Tania
- Weckhuysen, Sarah
- Tommerup, Niels
- Troncoso, Monica
- Troncoso, Ledia
- Bevot, Andrea
- Wolff, Markus
- Hjalgrim, Helle
- Guerrini, Renzo
- Scheffer, Ingrid E
- Mefford, Heather C
- Møller, Rikke S
2015
Link zum Volltext
Genetics in medicine, 2018-09, Vol.20 (9), p.965-975
- Ivanovski, Ivan
- Djuric, Olivera
- Caraffi, Stefano Giuseppe
- Santodirocco, Daniela
- Pollazzon, Marzia
- Rosato, Simonetta
- Cordelli, Duccio Maria
- Abdalla, Ebtesam
- Accorsi, Patrizia
- Adam, Margaret P
- Ajmone, Paola Francesca
- Badura-Stronka, Magdalena
- Baldo, Chiara
- Baldi, Maddalena
- Bayat, Allan
- Bigoni, Stefania
- Bonvicini, Federico
- Breckpot, Jeroen
- Callewaert, Bert
- Cocchi, Guido
- Cuturilo, Goran
- De Brasi, Daniele
- Devriendt, Koenraad
- Dinulos, Mary Beth
- Hjortshøj, Tina Duelund
- Epifanio, Roberta
- Faravelli, Francesca
- Fiumara, Agata
- Formisano, Debora
- Giordano, Lucio
- Grasso, Marina
- Grønborg, Sabine
- Iodice, Alessandro
- Iughetti, Lorenzo
- Kuburovic, Vladimir
- Kutkowska-Kazmierczak, Anna
- Lacombe, Didier
- Lo Rizzo, Caterina
- Luchetti, Anna
- Malbora, Baris
- Mammi, Isabella
- Mari, Francesca
- Montorsi, Giulia
- Moutton, Sebastien
- Møller, Rikke S
- Muschke, Petra
- Nielsen, Jens Erik Klint
- Obersztyn, Ewa
- Pantaleoni, Chiara
- Pellicciari, Alessandro
- Pisanti, Maria Antonietta
- Prpic, Igor
- Poch-Olive, Maria Luisa
- Raviglione, Federico
- Renieri, Alessandra
- Ricci, Emilia
- Rivieri, Francesca
- Santen, Gijs W
- Savasta, Salvatore
- Scarano, Gioacchino
- Schanze, Ina
- Selicorni, Angelo
- Silengo, Margherita
- Smigiel, Robert
- Spaccini, Luigina
- Sorge, Giovanni
- Szczaluba, Krzysztof
- Tarani, Luigi
- Tone, Luis Gonzaga
- Toutain, Annick
- Trimouille, Aurelien
- Valera, Elvis Terci
- Vergano, Samantha Schrier
- Zanotta, Nicoletta
- Zenker, Martin
- Conidi, Andrea
- Zollino, Marcella
- Rauch, Anita
- Zweier, Christiane
- Garavelli, Livia
2018
Link zum Volltext
Neurology, 2023-02, Vol.100 (6), p.e603
- Happ, Hannah C
- Sadleir, Lynette G
- Zemel, Matthew
- de Valles-Ibáñez, Guillem
- Hildebrand, Michael S
- McConkie-Rosell, Allyn
- McDonald, Marie
- May, Halie
- Sands, Tristan
- Aggarwal, Vimla
- Elder, Christopher
- Feyma, Timothy
- Bayat, Allan
- Møller, Rikke S
- Fenger, Christina D
- Klint Nielsen, Jens Erik
- Datta, Anita N
- Gorman, Kathleen M
- King, Mary D
- Linhares, Natalia D
- Burton, Barbara K
- Paras, Andrea
- Ellard, Sian
- Rankin, Julia
- Shukla, Anju
- Majethia, Purvi
- Olson, Rory J
- Muthusamy, Karthik
- Schimmenti, Lisa A
- Starnes, Keith
- Sedláčková, Lucie
- Štěrbová, Katalin
- Vlčková, Markéta
- Laššuthová, Petra
- Jahodová, Alena
- Porter, Brenda E
- Couque, Nathalie
- Colin, Estelle
- Prouteau, Clément
- Collet, Corinne
- Smol, Thomas
- Caumes, Roseline
- Vansenne, Fleur
- Bisulli, Francesca
- Licchetta, Laura
- Person, Richard
- Torti, Erin
- McWalter, Kirsty
- Webster, Richard
- Gerard, Elizabeth E
- Lesca, Gaetan
- Szepetowski, Pierre
- Scheffer, Ingrid E
- Mefford, Heather C
- Carvill, Gemma L
2023
Link zum Volltext
Journal of medical genetics, 2023-12, Vol.60 (12), p.1224
- Peluso, Francesca
- Caraffi, Stefano G
- Contrò, Gianluca
- Valeri, Lara
- Napoli, Manuela
- Carboni, Giorgia
- Seth, Alka
- Zuntini, Roberta
- Coccia, Emanuele
- Astrea, Guja
- Bisgaard, Anne-Marie
- Ivanovski, Ivan
- Maitz, Silvia
- Brischoux-Boucher, Elise
- Carter, Melissa T
- Dentici, Maria Lisa
- Devriendt, Koenraad
- Bellini, Melissa
- Digilio, Maria Cristina
- Doja, Asif
- Dyment, David A
- Farholt, Stense
- Ferreira, Carlos R
- Wolfe, Lynne A
- Gahl, William A
- Gnazzo, Maria
- Goel, Himanshu
- Grønborg, Sabine Weller
- Hammer, Trine
- Iughetti, Lorenzo
- Kleefstra, Tjitske
- Koolen, David A
- Lepri, Francesca Romana
- Lemire, Gabrielle
- Louro, Pedro
- McCullagh, Gary
- Madeo, Simona F
- Milone, Annarita
- Milone, Roberta
- Nielsen, Jens Erik Klint
- Novelli, Antonio
- Ockeloen, Charlotte W
- Pascarella, Rosario
- Pippucci, Tommaso
- Ricca, Ivana
- Robertson, Stephen P
- Sawyer, Sarah
- Falkenberg Smeland, Marie
- Stegmann, Sander
- Stumpel, Constanze T
- Goel, Amy
- Taylor, Juliet M
- Barbuti, Domenico
- Soresina, Annarosa
- Bedeschi, Maria Francesca
- Battini, Roberta
- Cavalli, Anna
- Fusco, Carlo
- Iascone, Maria
- Van Maldergem, Lionel
- Venkateswaran, Sunita
- Zuffardi, Orsetta
- Vergano, Samantha
- Garavelli, Livia
- Bayat, Allan
2023
Link zum Volltext
Ugeskrift for læger, 2019-07, Vol.181 (28)
2019
Link zum Volltext
Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-12, Article 151
- Ivanovski, Ivan
- Djuric, Olivera
- Broccoli, Serena
- Caraffi, Stefano Giuseppe
- Accorsi, Patrizia
- Adam, Margaret P
- Avela, Kristina
- Badura-Stronka, Magdalena
- Bayat, Allan
- Clayton-Smith, Jill
- Cocco, Isabella
- Cordelli, Duccio Maria
- Cuturilo, Goran
- Di Pisa, Veronica
- Dupont Garcia, Juliette
- Gastaldi, Roberto
- Giordano, Lucio
- Guala, Andrea
- Hoei-Hansen, Christina
- Inaba, Mie
- Iodice, Alessandro
- Nielsen, Jens Erik Klint
- Kuburovic, Vladimir
- Lazalde-Medina, Brissia
- Malbora, Baris
- Mizuno, Seiji
- Moldovan, Oana
- Maller, Rikke S
- Muschke, Petra
- Otelli, Valeria
- Pantaleoni, Chiara
- Piscopo, Carmelo
- Poch-Olive, Maria Luisa
- Prpic, Igor
- Marín Reina, Purificación
- Raviglione, Federico
- Ricci, Emilia
- Scarano, Emanuela
- Simonte, Graziella
- Smigiel, Robert
- Tanteles, George
- Tarani, Luigi
- Trimouille, Aurelien
- Valera, Elvis Terci
- Schrier Vergano, Samantha
- Writzl, Karin
- Callewaert, Bert
- Savasta, Salvatore
- Street, Maria Elisabeth
- Iughetti, Lorenzo
- Bernasconi, Sergio
- Giorgi Rossi, Paolo
- Garavelli, Livia
2020
Link zum Volltext
Ugeskrift for læger, 2013-11, Vol.175 (48A)
2013
Link zum Volltext
Ugeskrift for læger, 2011-06, Vol.173 (24), p.1731
2011
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Ugeskrift for læger, 2003-08, Vol.165 (35), p.3323
2003
Link zum Volltext
PloS one, 2023-04, Vol.18 (4), p.e0282806-e0282806
2023
Link zum Volltext
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