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Results 11-17 of 17 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
2007
Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor
McKenzie, O.
;
Ponte, I.
;
Mangelsdorf, M.
;
Finnis, M.
;
Colasante, G.
;
Shoubridge, C.
;
Stifani, S.
;
Gecz, J.
;
Broccoli, V.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
Discover
Author
4
Kalscheuer, V.
4
Shoubridge, C.
3
et al.
3
Jolly, L.
3
Ropers, H.
3
Schwartz, C.
2
Abidi, F.
2
Broccoli, V.
2
Burdon, K.
2
Chelly, J.
.
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Subject
17
Humans
12
Mice
11
Male
10
Molecular Sequence Data
9
Female
8
Transcription Factors
7
Amino Acid Sequence
7
Intellectual Disability
7
Pedigree
6
Base Sequence
.
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Date issued
8
2010 - 2015
9
2001 - 2009