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Issue Date
Title
Author(s)
2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Corbett, M.A.
;
Dudding-Byth, T.
;
Crock, P.A.
;
Botta, E.
;
Christie, L.M.
;
Nardo, T.
;
Caligiuri, G.
;
Hobson, L.
;
Boyle, J.
;
Mansour, A.
;
Friend, K.L.
;
Crawford, J.
;
Jackson, G.
;
Vandeleur, L.
;
Hackett, A.
;
Tarpey, P.
;
Stratton, M.R.
;
Turner, G.
;
Gecz, J.
;
Field, M.
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.
2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis
Stegeman, S.
;
Jolly, L.
;
Premarathne, S.
;
Gecz, J.
;
Richards, L.
;
Mackay-Sim, A.
;
Wood, S.
;
Alsina, B.
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.
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Author
13
Shoubridge, C.
12
Haan, E.
11
Hackett, A.
10
Corbett, M.
10
Nguyen, L.
8
Field, M.
8
Shaw, M.
7
et al.
7
Raynaud, M.
6
Chelly, J.
.
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33
Humans
24
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22
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18
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15
Animals
13
Intellectual Disability
12
Mice
11
Child
10
Phenotype
9
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2010