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Results 1-10 of 18 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
1996
FRAGILE X SYNDROME AND FRAGILE XE MENTAL RETARDATION [Review]
Sutherland, G.
;
Mulley, J.
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
Dibbens, L.
;
Feng, H.
;
Richards, M.
;
Harkin, L.
;
Hodgson, B.
;
Scott, D.
;
Jenkins, M.
;
Petrou, S.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
;
Mcdonald, R.
;
Mulley, J.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Dibbens, L.
;
Mullen, S.
;
Helbig, I.
;
Mefford, H.
;
Bayly, M.
;
Bellows, S.
;
Leu, C.
;
Trucks, H.
;
Obermeier, T.
;
Wittig, M.
;
Franke, A.
;
Caglayan, H.
;
Yapici, Z.
;
Sander, T.
;
Eichler, E.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
2008
Navigating the channels and beyond: unravelling the genetics of the epilepsies
Helbig, I.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
1995
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2
Phillips, H.
;
Scheffer, I.
;
Berkovic, S.
;
Hollway, G.
;
Sutherland, G.
;
Mulley, J.
Discover
Author
14
Berkovic, S.
14
Scheffer, I.
7
Sutherland, G.
6
Dibbens, L.
5
Harkin, L.
5
Phillips, H.
5
Wallace, R.
4
McMahon, J.
2
et al.
2
Haan, E.
.
next >
Subject
18
Female
18
Humans
11
Pedigree
7
Mutation
6
Adult
6
Child
6
Epilepsy, Generalized
6
Sodium Channels
5
Child, Preschool
5
Genetic Linkage
.
next >
Date issued
3
2010 - 2012
9
2000 - 2009
6
1995 - 1999