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Results 41-49 of 49 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2016
Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice
Pederick, D.
;
Homan, C.
;
Jaehne, E.
;
Piltz, S.
;
Haines, B.
;
Baune, B.
;
Jolly, L.
;
Hughes, J.
;
Gecz, J.
;
Thomas, P.
2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, S.
;
Rooms, L.
;
Rainger, J.
;
Taylor, M.
;
Bengani, H.
;
Wilson, D.
;
Chilamakuri, C.
;
Morrison, H.
;
Vandeweyer, G.
;
Reyniers, E.
;
Douglas, E.
;
Thompson, G.
;
Haan, E.
;
Gecz, J.
;
FitzPatrick, D.
;
Kooy, R.
;
Pearson, C.
2012
Polyalanine tract disorders and neurocognitive phenotypes
Shoubridge, C.
;
Gecz, J.
;
Hannan, A.
2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Kumar, R.
;
Ha, T.
;
Pham, D.
;
Shaw, M.
;
Mangelsdorf, M.
;
Friend, K.L.
;
Hobson, L.
;
Turner, G.
;
Boyle, J.
;
Field, M.
;
Hackett, A.
;
Corbett, M.
;
Gecz, J.
2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, M.A.
;
Bellows, S.T.
;
Li, M.
;
Carroll, R.
;
Micallef, S.
;
Carvill, G.L.
;
Myers, C.T.
;
Howell, K.B.
;
Maljevic, S.
;
Lerche, H.
;
Gazina, E.V.
;
Mefford, H.C.
;
Bahlo, M.
;
Berkovic, S.F.
;
Petrou, S.
;
Scheffer, I.E.
;
Gecz, J.
2017
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
Bridges, C.
;
Tan, M.
;
Premarathne, S.
;
Nanayakkara, D.
;
Bellette, B.
;
Zencak, D.
;
Domingo, D.
;
Gecz, J.
;
Murtaza, M.
;
Jolly, L.
;
Wood, S.
2017
Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERĪ±)
Pham, D.
;
Tan, C.
;
Homan, C.
;
Kolc, K.L.
;
Corbett, M.
;
McAninch, D.
;
Fox, A.
;
Thomas, P.
;
Kumar, R.
;
Gecz, J.
2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
Mulley, J.C.
;
Heron, S.E.
;
Wallace, R.H.
;
Gecz, J.
;
Dibbens, L.M.
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.
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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35
Male
33
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24
Mutation
19
Animals
19
Intellectual Disability
17
Pedigree
15
Child
15
Mice
13
Phenotype
10
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