Results
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Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. [electronic resource] by
- White, Rose
- Ho, Gladys
- Schmidt, Swetlana
- Scheffer, Ingrid E
- Fischer, Alexandra
- Yendle, Simone C
- Bienvenu, Thierry
- Nectoux, Juliette
- Ellaway, Carolyn J
- Darmanian, Artur
- Tong, XingZhang
- Cloosterman, Desiree
- Bennetts, Bruce
- Kalra, Veena
- Fullston, Tod
- Gecz, Jozef
- Cox, Timothy C
- Christodoulou, John
Producer: 20100804
In:
Twin research and human genetics : the official journal of the International Society for Twin Studies vol. 13
Availability: No items available.
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3.
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Rare copy number variants are an important cause of epileptic encephalopathies. [electronic resource] by
- Mefford, Heather C
- Yendle, Simone C
- Hsu, Cynthia
- Cook, Joseph
- Geraghty, Eileen
- McMahon, Jacinta M
- Eeg-Olofsson, Orvar
- Sadleir, Lynette G
- Gill, Deepak
- Ben-Zeev, Bruria
- Lerman-Sagie, Tally
- Mackay, Mark
- Freeman, Jeremy L
- Andermann, Eva
- Pelakanos, James T
- Andrews, Ian
- Wallace, Geoffrey
- Eichler, Evan E
- Berkovic, Samuel F
- Scheffer, Ingrid E
Producer: 20120209
In:
Annals of neurology vol. 70
Availability: No items available.
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4.
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. [electronic resource] by
- Weckhuysen, Sarah
- Mandelstam, Simone
- Suls, Arvid
- Audenaert, Dominique
- Deconinck, Tine
- Claes, Lieve R F
- Deprez, Liesbet
- Smets, Katrien
- Hristova, Dimitrina
- Yordanova, Iglika
- Jordanova, Albena
- Ceulemans, Berten
- Jansen, An
- Hasaerts, Danièle
- Roelens, Filip
- Lagae, Lieven
- Yendle, Simone
- Stanley, Thorsten
- Heron, Sarah E
- Mulley, John C
- Berkovic, Samuel F
- Scheffer, Ingrid E
- de Jonghe, Peter
Producer: 20120309
In:
Annals of neurology vol. 71
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5.
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. [electronic resource] by
- Weckhuysen, Sarah
- Holmgren, Philip
- Hendrickx, Rik
- Jansen, Anna C
- Hasaerts, Daniele
- Dielman, Charlotte
- de Bellescize, Julitta
- Boutry-Kryza, Nadia
- Lesca, Gaetan
- Von Spiczak, Sarah
- Helbig, Ingo
- Gill, Deepak
- Yendle, Simone
- Møller, Rikke S
- Klitten, Laura
- Korff, Christian
- Godfraind, Catherine
- Van Rijckevorsel, Kenou
- De Jonghe, Peter
- Hjalgrim, Helle
- Scheffer, Ingrid E
- Suls, Arvid
Producer: 20130625
In:
Epilepsia vol. 54
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6.
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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. [electronic resource] by
- Catarino, Claudia B
- Liu, Joan Y W
- Liagkouras, Ioannis
- Gibbons, Vaneesha S
- Labrum, Robyn W
- Ellis, Rachael
- Woodward, Cathy
- Davis, Mary B
- Smith, Shelagh J
- Cross, J Helen
- Appleton, Richard E
- Yendle, Simone C
- McMahon, Jacinta M
- Bellows, Susannah T
- Jacques, Thomas S
- Zuberi, Sameer M
- Koepp, Matthias J
- Martinian, Lillian
- Scheffer, Ingrid E
- Thom, Maria
- Sisodiya, Sanjay M
Producer: 20111215
In:
Brain : a journal of neurology vol. 134
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7.
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Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. [electronic resource] by
- Grinton, Bronwyn E
- Heron, Sarah E
- Pelekanos, James T
- Zuberi, Sameer M
- Kivity, Sara
- Afawi, Zaid
- Williams, Tristiana C
- Casalaz, Dan M
- Yendle, Simone
- Linder, Ilan
- Lev, Dorit
- Lerman-Sagie, Tally
- Malone, Stephen
- Bassan, Haim
- Goldberg-Stern, Hadassa
- Stanley, Thorsten
- Hayman, Michael
- Calvert, Sophie
- Korczyn, Amos D
- Shevell, Michael
- Scheffer, Ingrid E
- Mulley, John C
- Berkovic, Samuel F
Producer: 20150916
In:
Epilepsia vol. 56
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8.
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders. [electronic resource] by
- 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
Producer: 20131126
In:
Nature genetics vol. 45
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Mutations in KCNT1 cause a spectrum of focal epilepsies. [electronic resource] by
- Møller, Rikke S
- Heron, Sarah E
- Larsen, Line H G
- Lim, Chiao Xin
- Ricos, Michael G
- Bayly, Marta A
- van Kempen, Marjan J A
- Klinkenberg, Sylvia
- Andrews, Ian
- Kelley, Kent
- Ronen, Gabriel M
- Callen, David
- McMahon, Jacinta M
- Yendle, Simone C
- Carvill, Gemma L
- Mefford, Heather C
- Nabbout, Rima
- Poduri, Annapurna
- Striano, Pasquale
- Baglietto, Maria G
- Zara, Federico
- Smith, Nicholas J
- Pridmore, Clair
- Gardella, Elena
- Nikanorova, Marina
- Dahl, Hans Atli
- Gellert, Pia
- Scheffer, Ingrid E
- Gunning, Boudewijn
- Kragh-Olsen, Bente
- Dibbens, Leanne M
Producer: 20160429
In:
Epilepsia vol. 56
Availability: No items available.
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10.
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. [electronic resource] by
- Carvill, Gemma L
- Heavin, Sinéad B
- Yendle, Simone C
- McMahon, Jacinta M
- O'Roak, Brian J
- Cook, Joseph
- Khan, Adiba
- Dorschner, Michael O
- Weaver, Molly
- Calvert, Sophie
- Malone, Stephen
- Wallace, Geoffrey
- Stanley, Thorsten
- Bye, Ann M E
- Bleasel, Andrew
- Howell, Katherine B
- Kivity, Sara
- Mackay, Mark T
- Rodriguez-Casero, Victoria
- Webster, Richard
- Korczyn, Amos
- Afawi, Zaid
- Zelnick, Nathanel
- Lerman-Sagie, Tally
- Lev, Dorit
- Møller, Rikke S
- Gill, Deepak
- Andrade, Danielle M
- Freeman, Jeremy L
- Sadleir, Lynette G
- Shendure, Jay
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Mefford, Heather C
Producer: 20130910
In:
Nature genetics vol. 45
Availability: No items available.
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