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Results 1-8 of 8 (Search time: 0.001 seconds).
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Issue Date
Title
Author(s)
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
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.
2015
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Walz, K.
;
Cohen, D.
;
Neilsen, P.
;
Foster, J.
;
Brancati, F.
;
Demir, K.
;
Fisher, R.
;
Moffat, M.
;
Verbeek, N.
;
Bjørgo, K.
;
Lo Castro, A.
;
Curatolo, P.
;
Novelli, G.
;
Abad, C.
;
Lei, C.
;
Zhang, L.
;
Diaz-Horta, O.
;
Young, J.
;
Callen, D.
;
Tekin, M.
2017
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
Hinze, S.
;
Jackson, M.
;
Lie, S.
;
Jolly, L.
;
Field, M.
;
Barry, S.
;
Harvey, R.
;
Shoubridge, C.
Discover
Author
6
Gecz, J.
5
Jolly, L.
3
Nguyen, L.
2
Barry, S.
2
Corbett, M.
2
Field, M.
2
Gardner, A.
2
Haan, E.
2
Kalscheuer, V.
2
Shoubridge, C.
.
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Subject
8
Animals
8
Male
7
Humans
3
Amino Acid Sequence
3
Carrier Proteins
3
Nerve Tissue Proteins
3
Neurons
3
Pedigree
2
Abnormalities, Multiple
2
Cell Proliferation
.
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Date issued
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2013
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2012
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2010