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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.
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2014
UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders
Laumonnier, F.
;
Nguyen, L.
;
Jolly, L.
;
Raynaud, M.
;
Gecz, J.
;
Patel, V.
;
Preedy, P.
;
Martin, C.
2004
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males
Cantagrel, V.
;
Lossi, A.
;
Boulanger, S.
;
Depetris, D.
;
Mattei, M.
;
Gecz, J.
;
Schwartz, C.
;
van Maldergem, L.
;
Villard, L.
2013
Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions
Mattiske, T.
;
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
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)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
Discover
Author
13
Schwartz, C.
12
Corbett, M.
12
Hackett, A.
12
Moraine, C.
11
Nguyen, L.
10
Fullston, T.
10
Partington, M.
10
Raynaud, M.
10
Van Esch, H.
8
Field, M.
.
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Subject
88
Humans
54
Male
48
Mutation
44
Female
29
Intellectual Disability
29
Pedigree
28
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
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Date issued
2
2020 - 2023
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2010 - 2019
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2000 - 2009
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1997 - 1999