Results
|
|
101.
|
|
|
|
102.
|
|
|
|
103.
|
|
|
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104.
|
|
|
|
105.
|
|
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106.
|
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. [electronic resource] by
- Demarest, Scott T
- Olson, Heather E
- Moss, Angela
- Pestana-Knight, Elia
- Zhang, Xiaoming
- Parikh, Sumit
- Swanson, Lindsay C
- Riley, Katherine D
- Bazin, Grace A
- Angione, Katie
- Niestroj, Lisa-Marie
- Lal, Dennis
- Juarez-Colunga, Elizabeth
- Benke, Tim A
Producer: 20200415
In:
Epilepsia vol. 60
Availability: No items available.
|
|
|
107.
|
Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome. [electronic resource] by
- Jagtap, Smita
- Thanos, Jessica M
- Fu, Ting
- Wang, Jennifer
- Lalonde, Jasmin
- Dial, Thomas O
- Feiglin, Ariel
- Chen, Jeffrey
- Kohane, Isaac
- Lee, Jeannie T
- Sheridan, Steven D
- Perlis, Roy H
Producer: 20200526
In:
Human molecular genetics vol. 28
Availability: No items available.
|
|
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108.
|
|
|
|
109.
|
Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). [electronic resource] by
- Usluer, Sunay
- Kayserili, Melek Aslı
- Eken, Aslı Gündoğdu
- Yiş, Uluc
- Leu, Costin
- Altmüller, Janine
- Thiele, Holger
- Nürnberg, Peter
- Sander, Thomas
- Çağlayan, S Hande
Producer: 20180329
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 21
Availability: No items available.
|
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110.
|
|
|
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111.
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112.
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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
- Piard, Juliette
- Hawkes, Lara
- Milh, Mathieu
- Villard, Laurent
- Borgatti, Renato
- 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
Availability: No items available.
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114.
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115.
|
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|
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116.
|
|
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117.
|
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study. [electronic resource] by
- Trivisano, Marina
- 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
Availability: No items available.
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119.
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120.
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