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Results 11-20 of 20 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2001
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Phillips, H.
;
Favre, I.
;
Kirkpatrick, M.
;
Zuberi, S.
;
Goudie, D.
;
Heron, S.
;
Scheffer, I.
;
Sutherland, G.
;
Berkovic, S.
;
Bertrand, D.
;
Mulley, J.
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 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
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Kousoulidou, L.
;
Parkel, S.
;
Zilina, O.
;
Palta, P.
;
Puusepp, H.
;
Remm, M.
;
Turner, G.
;
Boyle, J.
;
van Bokhoven, H.
;
de Brouwer, A.
;
Van Esch, H.
;
Froyen, G.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
Kurg, A.
;
Patsalis, P.
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.
2007
Impaired fat oxidation after a single high-fat meal in insulin-sensitive nondiabetic individuals with a family history of type 2 diabetes
Heilbronn, L.
;
Gregersen, S.
;
Shirkhedkar, D.
;
Hu, D.
;
Campbell, L.
2005
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer
Worthley, D.
;
Walsh, M.
;
Barker, M.
;
Ruszkiewicz, A.
;
Bennett, G.
;
Phillips, K.
;
Suthers, G.
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
12
Mulley, J.
9
Scheffer, I.
8
Berkovic, S.
6
Wallace, R.
4
Gecz, J.
3
Dibbens, L.
3
Gedeon, A.
3
Heron, S.
3
Phillips, H.
3
Sutherland, G.
.
next >
Subject
20
Humans
10
Adult
9
Child
9
Mutation
8
Child, Preschool
7
Middle Aged
6
Adolescent
6
DNA Mutational Analysis
6
Mutation, Missense
5
Amino Acid Sequence
.
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2004
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2003
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2002
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2001