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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.
2019
GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon
Tingang Wonkam, E.
;
Chimusa, E.
;
Noubiap, J.J.
;
Adadey, S.M.
;
F Fokouo, J.V.
;
Wonkam, A.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
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.
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
SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum
Herlenius, E.
;
Heron, S.
;
Grinton, B.
;
Keay, D.
;
Scheffer, I.
;
Mulley, J.
;
Berkovic, S.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
2004
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
Dudding, T.
;
Friend, K.
;
Schofield, P.
;
Lee, S.
;
Wilkinson, I.
;
Richards, R.
2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
McLellan, A.
;
Phillips, H.
;
Rittey, C.
;
Kirkpatrick, M.
;
Mulley, J.
;
Goudie, D.
;
Stephenson, J.
;
Tolmie, J.
;
Scheffer, I.
;
Berkovic, S.
;
Zuberi, S.
Discover
Author
6
Mulley, J.
3
Berkovic, S.
3
Heron, S.
3
Scheffer, I.
2
Gedeon, A.
2
Grinton, B.
2
Hodgson, B.
2
Richards, R.
1
Adadey, S.M.
1
Baker, E.
.
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Adult
8
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8
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7
Child
5
Aged
5
Child, Preschool
5
Mutation
4
Infant
3
Aged, 80 and over
3
DNA Mutational Analysis
.
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Date issued
2
2010 - 2019
5
2000 - 2009
2
1995 - 1999