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News / The University of Adelaide Libraries [1993-2001]
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Issue Date
Title
Author(s)
2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Ishibashi, M.
;
Manning, E.
;
Shoubridge, C.
;
Krecsmarik, M.
;
Hawkins, T.
;
Giacomotto, J.
;
Zhao, T.
;
Mueller, T.
;
Bader, P.
;
Cheung, S.
;
Stankiewicz, P.
;
Bain, N.
;
Hackett, A.
;
Reddy, C.
;
Mechaly, A.
;
Peers, B.
;
Wilson, S.
;
Lenhard, B.
;
Bally-Cuif, L.
;
Gecz, J.
;
et al.
2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G.
;
Bainbridge, M.
;
Haan, E.
;
Corbett, M.
;
Gardner, A.
;
Thompson, S.
;
Van Bon, B.
;
Van Eyk, C.
;
Broadbent, J.
;
Reynolds, C.
;
O'Callaghan, M.
;
Nguyen, L.
;
Adelson, D.
;
Russo, R.
;
Jhangiani, S.
;
Doddapaneni, H.
;
Muzny, D.
;
Gibbs, R.
;
Gecz, J.
;
MacLennan, A.
2015
Seizures are regulated by ubiquitin-specific peptidase 9 x-linked (USP9X), a de-ubiquitinase
Paemka, L.
;
Mahajan, V.
;
Ehaideb, S.
;
Skeie, J.
;
Tan, M.
;
Wu, S.
;
Cox, A.
;
Sowers, L.
;
Gecz, J.
;
Jolly, L.
;
Ferguson, P.
;
Darbro, B.
;
Schneider, A.
;
Scheffer, I.
;
Carvill, G.
;
Mefford, H.
;
El-Shanti, H.
;
Wood, S.
;
Manak, J.
;
Bassuk, A.
;
Frankel, W.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
Discover
Author
2
Jolly, L.
2
Nguyen, L.
1
Adelson, D.
1
Bader, P.
1
Bain, N.
1
Bainbridge, M.
1
Bally-Cuif, L.
1
Barry, S.
1
Bassuk, A.
1
Bonora, E.
.
next >
Subject
3
Humans
2
Brain
2
Female
2
Intellectual Disability
2
Male
2
Mice
1
Active Transport, Cell Nucleus
1
Adult
1
Amino Acid Sequence
1
Amino Acid Substitution
.
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