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News / The University of Adelaide Libraries [1993-2001]
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Issue Date
Title
Author(s)
2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M.E.K.
;
Martin, H.C.
;
Rice, D.L.
;
Gallone, G.
;
Gordon, S.
;
Kelemen, M.
;
McAloney, K.
;
McRae, J.
;
Radford, E.J.
;
Yu, S.
;
Gecz, J.
;
Martin, N.G.
;
Wright, C.F.
;
Fitzpatrick, D.R.
;
Firth, H.V.
;
Hurles, M.E.
;
Barrett, J.C.
2018
Robust imaging and gene delivery to study human lymphoblastoid cell lines
Jolly, L.
;
Sun, Y.
;
Carroll, R.
;
Homan, C.
;
Gecz, J.
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.
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.
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Author
2
Jolly, L.
1
Andersen, U.
1
Baker, C.
1
Barrett, J.C.
1
Bauters, M.
1
Bernier, R.
1
Bosch, D.
1
Broadbent, J.
1
Carroll, R.
1
Carvill, G.
.
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Subject
6
Female
5
Humans
2
Cell Line
2
Cohort Studies
2
Genetic Predisposition to Disease
2
Intellectual Disability
2
Mutation
2
Neurodevelopmental Disorders
2
Phenotype
1
Adolescent
.
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