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Results 11-15 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
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.
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.
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
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.
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Author
11
Berkovic, S.
11
Scheffer, I.
6
Wallace, R.
4
Dibbens, L.
4
Gecz, J.
4
Heron, S.
4
Phillips, H.
4
Sutherland, G.
3
Gedeon, A.
3
Grinton, B.
.
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Humans
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13
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9
Adult
9
Mutation
8
Child
6
Adolescent
6
Child, Preschool
6
DNA Mutational Analysis
6
Middle Aged
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