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Results 31-40 of 49 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
2010
Genetics of the epilepsies: Genetic twists in the channels and other tales
Scheffer, I.
;
Zhang, Y.
;
Gecz, J.
;
Dibbens, L.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Rigbye, K.
;
van Hasselt, P.
;
Burgess, R.
;
Damiano, J.
;
Mullen, S.
;
Petrovski, S.
;
Puranam, R.
;
van Gassen, K.
;
Gecz, J.
;
Scheffer, I.
;
McNamara, J.
;
Berkovic, S.
;
Hildebrand, M.
2013
CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling
Starokadomskyy, P.
;
Gluck, N.
;
Li, H.
;
Chen, B.
;
Wallis, M.
;
Maine, G.
;
Mao, X.
;
Zaidi, I.
;
Hein, M.
;
McDonald, F.
;
Lenzner, S.
;
Zecha, A.
;
Ropers, H.
;
Kuss, A.
;
McGaughran, J.
;
Gecz, J.
;
Burstein, E.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, L.
;
Freytag, S.
;
Afawi, Z.
;
Baldassari, S.
;
Berkovic, S.
;
Bisulli, F.
;
Canafoglia, L.
;
Casari, G.
;
Crompton, D.
;
Depienne, C.
;
Gecz, J.
;
Guerrini, R.
;
Helbig, I.
;
Hirsch, E.
;
Keren, B.
;
Klein, K.
;
Labauge, P.
;
LeGuern, E.
;
Licchetta, L.
;
Mei, D.
;
et al.
Discover
Author
9
Corbett, M.
9
Haan, E.
9
Jolly, L.
7
Berkovic, S.
7
et al.
7
Nguyen, L.
7
Shoubridge, C.
6
Scheffer, I.
5
Dibbens, L.
5
Gardner, A.
.
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Subject
35
Male
33
Female
24
Mutation
19
Animals
19
Intellectual Disability
17
Pedigree
15
Child
15
Mice
13
Phenotype
10
Adult
.
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2011
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