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Results 11-17 of 17 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
1998
PAK3 mutation in nonsyndromic X-linked mental retardation
Allen, K.
;
Gleeson, J.
;
Bagrodia, S.
;
Partington, M.
;
MacMillan, J.
;
Cerione, R.
;
Mulley, J.
;
Walsh, C.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
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.
1999
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation
Gecz, J.
;
Barnett, S.
;
Liu, J.
;
Hollway, G.
;
Donnelly, A.
;
Eyre, H.
;
Eshkevari, H.
;
Baltazar, R.
;
Grunn, A.
;
Nagaraja, R.
;
Gilliam, C.
;
Peltonen, L.
;
Sutherland, G.
;
Baron, M.
;
Mulley, J.
1997
Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activators
Gecz, J.
;
Bielby, S.
;
Sutherland, G.
;
Mulley, J.
2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
Ewans, L.J.
;
Field, M.
;
Zhu, Y.
;
Turner, G.
;
Leffler, M.
;
Dinger, M.E.
;
Cowley, M.J.
;
Buckley, M.F.
;
Scheffer, I.E.
;
Jackson, M.R.
;
Roscioli, T.
;
Shoubridge, C.
Discover
Author
11
Mulley, J.
6
Gecz, J.
6
Gedeon, A.
6
Sutherland, G.
4
Donnelly, A.
4
Turner, G.
2
Baker, E.
2
Coe, B.
2
et al.
2
Eyre, H.
.
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Subject
16
Humans
12
Female
12
Male
8
X Chromosome
6
Chromosome Mapping
6
Pedigree
6
Syndrome
5
Child
5
Genetic Linkage
5
Molecular Sequence Data
.
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Date issued
6
2010 - 2020
11
1995 - 1999