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Results 1-10 of 12 (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.
2007
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
Heron, S.
;
Khosravani, H.
;
Varela, D.
;
Bladen, C.
;
Williams, T.
;
Newman, M.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
;
Zamponi, G.
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.
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.
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.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
2010
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Heron, S.
;
Scheffer, I.
;
Iona, X.
;
Zuberi, S.
;
Birch, R.
;
McMahon, J.
;
Bruce, C.
;
Berkovic, S.
;
Mulley, J.
2007
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity
Dibbens, L.
;
Ekberg, J.
;
Taylor, I.
;
Hodgson, B.
;
Conroy, S.
;
Lensink, I.
;
Kumar, S.
;
Zielinski, M.
;
Harkin, L.
;
Sutherland, G.
;
Adams, D.
;
Berkovic, S.
;
Scheffer, I.
;
Mulley, J.
;
Poronnik, P.
Discover
Author
11
Berkovic, S.
11
Scheffer, I.
5
Sutherland, G.
5
Wallace, R.
4
Dibbens, L.
4
Harkin, L.
4
Phillips, H.
3
McMahon, J.
2
Heron, S.
2
Hodgson, B.
.
next >
Subject
12
Humans
11
Female
11
Male
6
Epilepsy, Generalized
5
Adult
5
Genetic Linkage
5
Genetic Predisposition to Disease
4
Child
4
Sodium Channels
3
Amino Acid Sequence
.
next >
Date issued
8
2000 - 2010
4
1995 - 1999