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Results 1-8 of 8 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
Kalscheuer, V.
;
Iqbal, Z.
;
Hu, H.
;
Haas, S.
;
Shaw, M.
;
Lebrun, N.
;
Seemanova, E.
;
Voesenek, K.
;
Hobson, L.
;
Ropers, H.H.
;
Townshend, S.
;
Raynaud, M.
;
van Bokhoven, H.
;
Riazuddin, S.
;
Chelly, J.
;
Gecz, J.
2013
PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2013
Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions
Mattiske, T.
;
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2013
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Le Fevre, A.
;
Taylor, S.
;
Malek, N.
;
Horn, D.
;
Carr, C.
;
Abdul-Rahman, O.
;
O'Donnell, S.
;
Burgess, T.
;
Shaw, M.
;
Gecz, J.
;
Bain, N.
;
Fagan, K.
;
Hunter, M.
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
2013
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
Afawi, Z.
;
Mandelstam, S.
;
Korczyn, A.
;
Kivity, S.
;
Walid, S.
;
Shalata, A.
;
Oliver, K.
;
Corbett, M.
;
Gecz, J.
;
Berkovic, S.
;
Jackson, G.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2013
CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling
Starokadomskyy, P.
;
Gluck, N.
;
Li, H.
;
Chen, B.
;
Wallis, M.
;
Maine, G.
;
Mao, X.
;
Zaidi, I.
;
Hein, M.
;
McDonald, F.
;
Lenzner, S.
;
Zecha, A.
;
Ropers, H.
;
Kuss, A.
;
McGaughran, J.
;
Gecz, J.
;
Burstein, E.
Discover
Author
3
Shoubridge, C.
2
Hannan, A.
2
Hatters, D.
2
Shaw, M.
2
Tan, M.
1
Abdul-Rahman, O.
1
Afawi, Z.
1
Bain, N.
1
Barry, S.
1
Berkovic, S.
.
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Subject
3
Humans
2
06 Biological Sciences
2
0604 Genetics
2
060403 Developmental Genetics (in...
2
92 Health
2
Animals
2
Epilepsy
2
Gene Expression Regulation
2
Mice
2
Signal Transduction
.
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