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Producer: 20200415
In:
Epilepsia vol. 60
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Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome. [electronic resource] by
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- Dial, Thomas O
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- Chen, Jeffrey
- Kohane, Isaac
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Producer: 20200526
In:
Human molecular genetics vol. 28
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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). [electronic resource] by
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- Thiele, Holger
- Nürnberg, Peter
- Sander, Thomas
- Çağlayan, S Hande
Producer: 20180329
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European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 21
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. [electronic resource] by
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- Romaniello, Romina
- Fradin, Melanie
- Capri, Yline
- Héron, Delphine
- Nougues, Marie-Christine
- Nava, Caroline
- Arsene, Oana Tarta
- Shears, Debbie
- Taylor, John
- Pagnamenta, Alistair
- Taylor, Jenny C
- Sogawa, Yoshimi
- Johnson, Diana
- Firth, Helen
- Vasudevan, Pradeep
- Jones, Gabriela
- Nguyen-Morel, Marie-Ange
- Busa, Tiffany
- Roubertie, Agathe
- van den Born, Myrthe
- Brischoux-Boucher, Elise
- Koenig, Michel
- Mignot, Cyril
- Kini, Usha
- Philippe, Christophe
Producer: 20200213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study. [electronic resource] by
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- Pietrafusa, Nicola
- Terracciano, Alessandra
- Marini, Carla
- Mei, Davide
- Darra, Francesca
- Accorsi, Patrizia
- Battaglia, Domenica
- Caffi, Lorella
- Canevini, Maria P
- Cappelletti, Simona
- Cesaroni, Elisabetta
- de Palma, Luca
- Costa, Paola
- Cusmai, Raffaella
- Giordano, Lucio
- Ferrari, Annarita
- Freri, Elena
- Fusco, Lucia
- Granata, Tiziana
- Martino, Tommaso
- Mastrangelo, Massimo
- Bova, Stefania M
- Parmeggiani, Lucio
- Ragona, Francesca
- Sicca, Federico
- Striano, Pasquale
- Specchio, Luigi M
- Tondo, Ilaria
- Zambrelli, Elena
- Zamponi, Nelia
- Zanus, Caterina
- Boniver, Clementina
- Vecchi, Marilena
- Avolio, Carlo
- Dalla Bernardina, Bernardo
- Bertini, Enrico
- Guerrini, Renzo
- Vigevano, Federico
- Specchio, Nicola
Producer: 20190422
In:
Epilepsia vol. 59
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