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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.
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2004
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
Berkovic, S.
;
Heron, S.
;
Giordano, L.
;
Marini, C.
;
Guerrini, R.
;
Kaplan, R.
;
Gambardella, A.
;
Steinlein, O.
;
Grinton, B.
;
Dean, J.
;
Bordo, L.
;
Hodgson, B.
;
Yamamoto, T.
;
Mulley, J.
;
Zara, F.
;
Scheffer, I.
2003
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Gedeon, A.
;
Nelson, J.
;
Gecz, J.
;
Mulley, J.
2003
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C.
;
Nelson, P.
;
Poplawski, N.
;
Chin, S.
;
Fong, B.
;
Solly, P.
;
Fietz, M.
;
Fletcher, J.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
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.
2004
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
Dudding, T.
;
Friend, K.
;
Schofield, P.
;
Lee, S.
;
Wilkinson, I.
;
Richards, R.
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.
Discover
Author
6
Mulley, J.
4
Berkovic, S.
4
Scheffer, I.
3
Heron, S.
3
Wallace, R.
2
Dibbens, L.
2
Gecz, J.
2
Grinton, B.
2
Hodgson, B.
1
Adams, J.
.
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Child
9
Female
9
Male
6
Adolescent
6
Middle Aged
5
Infant
4
Mutation
4
Mutation, Missense
3
Genotype
3
Nerve Tissue Proteins
.
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Date issued
1
2010 - 2013
8
2002 - 2009