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Results 81-90 of 91 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2018
Robust imaging and gene delivery to study human lymphoblastoid cell lines
Jolly, L.
;
Sun, Y.
;
Carroll, R.
;
Homan, C.
;
Gecz, J.
2016
Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice
Pederick, D.
;
Homan, C.
;
Jaehne, E.
;
Piltz, S.
;
Haines, B.
;
Baune, B.
;
Jolly, L.
;
Hughes, J.
;
Gecz, J.
;
Thomas, P.
2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, S.
;
Rooms, L.
;
Rainger, J.
;
Taylor, M.
;
Bengani, H.
;
Wilson, D.
;
Chilamakuri, C.
;
Morrison, H.
;
Vandeweyer, G.
;
Reyniers, E.
;
Douglas, E.
;
Thompson, G.
;
Haan, E.
;
Gecz, J.
;
FitzPatrick, D.
;
Kooy, R.
;
Pearson, C.
2018
A Upf3b-mutant mouse model with behavioral and neurogenesis defects
Huang, L.
;
Shum, E.
;
Jones, S.
;
Lou, C.-H.
;
Dumdie, J.
;
Kim, H.
;
Roberts, A.
;
Jolly, L.
;
Espinoza, J.
;
Skarbrevik, D.
;
Phan, M.
;
Cook-Andersen, H.
;
Swerdlow, N.
;
Gecz, J.
;
Wilkinson, M.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Kumar, R.
;
Ha, T.
;
Pham, D.
;
Shaw, M.
;
Mangelsdorf, M.
;
Friend, K.L.
;
Hobson, L.
;
Turner, G.
;
Boyle, J.
;
Field, M.
;
Hackett, A.
;
Corbett, M.
;
Gecz, J.
2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, M.A.
;
Bellows, S.T.
;
Li, M.
;
Carroll, R.
;
Micallef, S.
;
Carvill, G.L.
;
Myers, C.T.
;
Howell, K.B.
;
Maljevic, S.
;
Lerche, H.
;
Gazina, E.V.
;
Mefford, H.C.
;
Bahlo, M.
;
Berkovic, S.F.
;
Petrou, S.
;
Scheffer, I.E.
;
Gecz, 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.
2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
Van Eyk, C.
;
Corbett, M.
;
Gardner, A.
;
Van Bon, B.
;
Broadbent, J.
;
Harper, K.
;
MacLennan, A.
;
Gecz, J.
2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
Kolc, K.
;
Sadleir, L.
;
Scheffer, I.
;
Ivancevic, A.
;
Roberts, R.
;
Pham, D.
;
Gecz, J.
Discover
Author
13
et al.
11
Turner, G.
10
Corbett, M.
9
Mulley, J.
9
Shaw, M.
8
Haan, E.
8
Jolly, L.
8
Scheffer, I.
7
Berkovic, S.
7
Chelly, J.
.
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Subject
89
Humans
72
Female
47
Mutation
43
Pedigree
34
Intellectual Disability
23
Child
23
Molecular Sequence Data
22
Adult
21
Animals
21
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2020 - 2021
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2000 - 2009
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1996 - 1999