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Results 21-28 of 28 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Stromme, P.
;
Mangelsdorf, M.
;
Scheffer, I.
;
Gecz, J.
2000
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects
Gecz, J.
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.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, S.
;
Rooms, L.
;
Rainger, J.
;
Taylor, M.
;
Bengani, H.
;
Wilson, D.
;
Chilamakuri, C.
;
Morrison, H.
;
Vandeweyer, G.
;
Reyniers, E.
;
Douglas, E.
;
Thompson, G.
;
Haan, E.
;
Gecz, J.
;
FitzPatrick, D.
;
Kooy, R.
;
Pearson, C.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
Discover
Author
6
Haan, E.
5
Kalscheuer, V.
4
et al.
4
Fryns, J.
4
Jolly, L.
4
Moraine, C.
4
Ropers, H.
4
Turner, G.
3
Chelly, J.
3
Field, M.
.
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Subject
28
Humans
22
Male
20
Mutation
18
Female
11
Pedigree
11
Phenotype
8
Animals
8
Chromosomes, Human, X
8
Molecular Sequence Data
7
Adult
.
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Date issued
12
2010 - 2016
16
2000 - 2009