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Results 41-50 of 60 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
Melko, M.
;
Douguet, D.
;
Bensaid, M.
;
Zongaro, S.
;
Verheggen, C.
;
Gecz, J.
;
Bardoni, B.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Field, M.
;
Scheffer, I.
;
Gill, D.
;
Wilson, M.
;
Christie, L.
;
Shaw, M.
;
Gardner, A.
;
Glubb, G.
;
Hobson, L.
;
Corbett, M.
;
Friend, K.
;
Willis-Owen, S.
;
Gecz, J.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
2010
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F.
;
Shoubridge, C.
;
Antar, C.
;
Nguyen, L.
;
Van Esch, H.
;
Kleefstra, T.
;
Briault, S.
;
Fryns, J.
;
Hamel, B.
;
Chelly, J.
;
Ropers, H.
;
Ronce, N.
;
Blesson, S.
;
Moraine, C.
;
Gecz, J.
;
Raynaud, M.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
2010
Genetics of the epilepsies: Genetic twists in the channels and other tales
Scheffer, I.
;
Zhang, Y.
;
Gecz, J.
;
Dibbens, L.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Shoubridge, C.
;
Tan, M.
;
Fullston, T.
;
Cloosterman, D.
;
Coman, D.
;
McGillivray, G.
;
Mancini, G.
;
Kleefstra, T.
;
Gecz, J.
2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Jensen, L.
;
Bartenschlager, H.
;
Rujirabanjerd, S.
;
Tzschach, A.
;
Numann, A.
;
Janecke, A.
;
Sporle, R.
;
Stricker, S.
;
Raynaud, M.
;
Nelson, J.
;
Hackett, A.
;
Fryns, J.
;
Chelly, J.
;
de Brouwer, A.
;
Hamel, B.
;
Gecz, J.
;
Ropers, H.
;
Kuss, A.
Discover
Author
12
Shoubridge, C.
10
Corbett, M.
10
Haan, E.
10
Hackett, A.
8
Field, M.
8
Nguyen, L.
7
et al.
7
Raynaud, M.
7
Shaw, M.
6
Chelly, J.
.
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Subject
32
Humans
22
Male
20
Female
17
Mutation
13
Animals
12
Intellectual Disability
11
Child
10
Mice
10
Phenotype
8
Adult
.
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2016
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2013
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2012
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2010