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Issue Date
Title
Author(s)
2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Cundy, T.
;
Hegde, M.
;
Naot, D.
;
Chong, B.
;
King, A.
;
Wallace, R.
;
Mulley, J.
;
Love, D.
;
Seidel, J.
;
Fawkner, M.
;
Banovic, T.
;
Callon, K.
;
Grey, A.
;
Reid, I.
;
Middleton-Hardie, C.
;
Cornish, J.
2007
Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations
Scheffer, I.
;
Harkin, L.
;
Grinton, B.
;
Dibbens, L.
;
Turner, S.
;
Zielinski, M.
;
Xu, R.
;
Jackson, G.
;
Adams, J.
;
Connellan, M.
;
Petrou, S.
;
Wellard, R.
;
Briellmann, R.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2002
Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Harkin, L.
;
Bowser, D.
;
Dibbens, L.
;
Singh, R.
;
Phillips, F.
;
Wallace, R.
;
Richards, M.
;
Williams, D.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
;
Petrou, S.
2001
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Wallace, R.
;
Scheffer, I.
;
Barnett, S.
;
Richards, M.
;
Dibbens, L.
;
Desai, R.
;
Lerman-Sagie, T.
;
Lev, D.
;
Mazarib, A.
;
Brand, N.
;
Ben-Zeev, B.
;
Goikhman, I.
;
Singh, R.
;
Kremmidiotis, G.
;
Gardner, A.
;
Sutherland, G.
;
George Jr., A.
;
Mulley, J.
;
Berkovic, S.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
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.
2003
Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
Wallace, R.
;
Hodgson, B.
;
Grinton, B.
;
Gardiner, R.
;
Robinson, R.
;
Rodriguez-Casero, V.
;
Sadleir, L.
;
Morgan, J.
;
Harkin, L.
;
Dibbens, L.
;
Yamamoto, T.
;
Andermann, E.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
Discover
Author
6
Scheffer, I.
5
Berkovic, S.
4
Dibbens, L.
3
Harkin, L.
2
Gecz, J.
2
Grinton, B.
2
Petrou, S.
2
Phillips, F.
2
Richards, M.
2
Singh, R.
.
next >
Subject
7
Male
6
Pedigree
4
Child
4
Child, Preschool
4
Mutation, Missense
3
Adult
3
Amino Acid Sequence
3
Epilepsy, Generalized
3
Molecular Sequence Data
3
Mutation
.
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Date issued
1
2007
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2003
4
2002
1
2001