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Issue Date
Title
Author(s)
2001
Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia
Lachmeijer, A.
;
Arngrimsson, R.
;
Bastiaans, E.
;
Pals, G.
;
ten Kate, L.
;
de Vries, J.
;
Kostense, P.
;
Aarnoudse, J.
;
Dekker, G.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
2006
ARX: a gene for all seasons
Gecz, J.
;
Cloosterman, D.
;
Partington, 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.
2009
SCARB2 Mutations in Progressive Myoclonus Epilepsy (PME) Without Renal Failure
Dibbens, L.
;
Michelucci, R.
;
Gambardella, A.
;
Andermann, F.
;
Rubboli, G.
;
Bayly, M.
;
Joensuu, T.
;
Vears, D.
;
Franceschetti, S.
;
Canafoglia, L.
;
Wallace, R.
;
Bassuk, A.
;
Power, D.
;
Tassinari, C.
;
Andermann, E.
;
Lehesjoki, A.
;
Berkovic, S.
Discover
Author
48
Gecz, J.
30
Hopwood, J.
27
et al.
14
Haan, E.
14
Scheffer, I.
13
Berkovic, S.
10
Dibbens, L.
10
Mulley, J.
9
Brooks, D.
9
Weber, B.
.
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Subject
142
Humans
86
Male
83
Female
54
Animals
37
Adult
36
Pedigree
35
Phenotype
33
Child
29
Molecular Sequence Data
27
Child, Preschool
.
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Date issued
42
2010 - 2018
91
2000 - 2009
22
1995 - 1999