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Results 1-10 of 13 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kolc, K.L.
;
Sadleir, L.G.
;
Depienne, C.
;
Marini, C.
;
Scheffer, I.E.
;
Møller, R.S.
;
Trivisano, M.
;
Specchio, N.
;
Pham, D.
;
Kumar, R.
;
Roberts, R.
;
Gecz, J.
2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M.E.K.
;
Martin, H.C.
;
Rice, D.L.
;
Gallone, G.
;
Gordon, S.
;
Kelemen, M.
;
McAloney, K.
;
McRae, J.
;
Radford, E.J.
;
Yu, S.
;
Gecz, J.
;
Martin, N.G.
;
Wright, C.F.
;
Fitzpatrick, D.R.
;
Firth, H.V.
;
Hurles, M.E.
;
Barrett, J.C.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, K.
;
Laurie, K.
;
Liebelt, J.
;
Gecz, J.
;
Durkin, S.
;
Craig, J.
;
Burden, K.
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.
Discover
Author
3
Berkovic, S.
3
Haan, E.
3
Jolly, L.
3
Kumar, R.
2
et al.
2
Homan, C.
2
Scheffer, I.
2
Thomas, P.
1
Abidi, F.
1
Amaral, D.
.
next >
Subject
12
Humans
6
Mutation
5
Animals
5
Intellectual Disability
3
Cells, Cultured
3
Child
3
Cohort Studies
3
Mice
3
Mice, Knockout
3
Molecular Sequence Data
.
next >
Date issued
11
2010 - 2020
2
2001 - 2009