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Results 11-18 of 18 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2008
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Butcher, C.
;
Hahn, U.
;
To, L.
;
Gecz, J.
;
Wilkins, E.
;
Scott, H.
;
Bardy, P.
;
D'Andrea, R.
2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Kousoulidou, L.
;
Parkel, S.
;
Zilina, O.
;
Palta, P.
;
Puusepp, H.
;
Remm, M.
;
Turner, G.
;
Boyle, J.
;
van Bokhoven, H.
;
de Brouwer, A.
;
Van Esch, H.
;
Froyen, G.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
Kurg, A.
;
Patsalis, P.
2008
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
Turner, G.
;
Boyle, J.
;
Partington, M.
;
Kerr, B.
;
Raymond, F.
;
Gecz, J.
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX
Scheffer, I.
;
Wallace, R.
;
Phillips, F.
;
Hewson, P.
;
Reardon, K.
;
Parasivam, G.
;
Stromme, P.
;
Berkovic, S.
;
Gecz, J.
;
Mulley, J.
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.
Discover
Author
8
Mulley, J.
5
Gedeon, A.
3
Berkovic, S.
3
Corbett, M.
3
Gardner, A.
3
Jolly, L.
3
Sutherland, G.
3
Turner, G.
2
Bahlo, M.
2
Boyle, J.
.
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Subject
17
Humans
15
Female
9
Pedigree
8
Mutation
7
Molecular Sequence Data
6
Amino Acid Sequence
6
Child
6
Intellectual Disability
5
Adult
5
Genetic Linkage
.
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Date issued
7
2010 - 2018
8
2000 - 2009
3
1996 - 1999