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Results 21-30 of 40 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, L.
;
Kim, H.
;
Rosenfeld, J.
;
Shen, Y.
;
Gusella, J.
;
Lacassie, Y.
;
Layman, L.
;
Shaffer, L.
;
Gecz, J.
2016
Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome
Zhu, F.
;
Wang, F.
;
Yang, X.
;
Zhang, J.
;
Wu, H.
;
Zhang, Z.
;
Zhang, Z.
;
He, X.
;
Zhou, P.
;
Wei, Z.
;
Gecz, J.
;
Cao, Y.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
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.
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.
2018
Robust imaging and gene delivery to study human lymphoblastoid cell lines
Jolly, L.
;
Sun, Y.
;
Carroll, R.
;
Homan, C.
;
Gecz, J.
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Author
9
Jolly, L.
7
Berkovic, S.
7
et al.
6
Corbett, M.
6
Haan, E.
6
Scheffer, I.
5
Dibbens, L.
5
Gardner, A.
5
Hackett, A.
4
Homan, C.
.
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Subject
38
Humans
38
Male
22
Mutation
18
Intellectual Disability
15
Animals
14
Pedigree
13
Child
11
Mice
10
Adult
10
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2018
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