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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
17
Shoubridge, C.
15
Ropers, H.
15
Turner, G.
14
Chelly, J.
14
et al.
14
Kalscheuer, V.
13
Fryns, J.
13
Haan, E.
13
Schwartz, C.
13
Shaw, M.
.
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Subject
87
Humans
52
Male
47
Mutation
42
Female
28
Intellectual Disability
28
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
.
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2
2020 - 2023
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2010 - 2019
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