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Results 81-87 of 87 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2000
Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia Tarda
Gecz, J.
;
Hillman, M.
;
Gedeon, A.
;
Cox, T.
;
Baker, E.
;
Mulley, J.
2002
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
Shaw, M.
;
Chiurazzi, P.
;
Romain, D.
;
Neri, G.
;
Gecz, J.
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.
1999
Characterisation and expression of a large, 13.7 kb FMR2 isoform
Gecz, J.
;
Mulley, J.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, M.
2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
Mulley, J.C.
;
Heron, S.E.
;
Wallace, R.H.
;
Gecz, J.
;
Dibbens, L.M.
2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, K.
;
Laurie, K.
;
Liebelt, J.
;
Gecz, J.
;
Durkin, S.
;
Craig, J.
;
Burden, K.
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Author
12
Ropers, H.
11
Haan, E.
11
Kalscheuer, V.
10
Fryns, J.
9
Chelly, J.
9
et al.
9
Moraine, C.
9
Shoubridge, C.
8
Turner, G.
7
Shaw, M.
.
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Subject
52
Male
47
Mutation
42
Female
28
Intellectual Disability
28
Pedigree
26
Molecular Sequence Data
25
Animals
22
Chromosomes, Human, X
21
Transcription Factors
20
Mental Retardation, X-Linked
.
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Date issued
1
2020 - 2021
32
2010 - 2019
51
2000 - 2009
3
1997 - 1999