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Results 1-9 of 9 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2009
Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13
Shoubridge, C.
;
Tan, M.
;
Fullston, T.
;
McGillivray, G.
;
Mancini, G.
;
Gecz, J.
;
Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
2009
Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX Gene
Demos, M.
;
Fullston, T.
;
Partington, M.
;
Gecz, J.
;
Gibson, W.
2009
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
Reish, O.
;
Fullston, T.
;
Regev, M.
;
Heyman, E.
;
Gecz, J.
2009
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Burdon, K.
;
Durkin, S.
;
Burke, M.
;
Edwards, M.
;
Pater, J.
;
Straga, T.
;
Gecz, J.
;
Liebelt, J.
;
Craig, J.
2009
A UPF3-mediated regulatory switch that maintains RNA surveillance
Chan, W.
;
Bhalla, A.
;
Le Hir, H.
;
Nguyen, L.
;
Huang, L.
;
Gecz, J.
;
Wilkinson, M.
2009
Lessons learnt from large-scale exon re-sequencing of the X chromosome
Raymond, F.
;
Whibley, A.
;
Stratton, M.
;
Gecz, J.
2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure
Bensaid, M.
;
Melko, M.
;
Bechara, E.
;
Davidovic, L.
;
Berretta, A.
;
Catania, M.
;
Gecz, J.
;
Lalli, E.
;
Bardoni, B.
2009
The genetic landscape of intellectual disability arising from chromosome X
Gecz, J.
;
Shoubridge, C.
;
Corbett, M.
2009
Börjeson-Forssman-Lehmann Syndrome
Crawford, J.
;
Partington, M.
;
Corbett, M.
;
Lower, K.
;
Gecz, J.
;
Beales, P.
;
Farooqi, I.
;
O'Rahilly, S.
Discover
Author
3
Fullston, T.
2
Corbett, M.
2
Partington, M.
2
Shoubridge, C.
1
Annual meeting of the American So...
1
Bardoni, B.
1
Beales, P.
1
Bechara, E.
1
Bensaid, M.
1
Berretta, A.
.
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Subject
4
Humans
2
Animals
2
Chromosomes, Human, X
2
Mental Retardation, X-Linked
2
Mice
2
RNA-Binding Proteins
1
27 bp duplication
1
Alternative Splicing
1
ARX
1
ARX gene
.
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