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Results 1-10 of 14 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1996
Fragile X Syndrome and other X-linked Causes of Mental Handicap
Sutherland, G.
;
Mulley, J.
1995
Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys
Gedeon, A.
;
Keinanen, M.
;
Ades, L.
;
Kaarianen, H.
;
Gecz, J.
;
Baker, E.
;
Sutherland, G.
;
Mulley, J.
2007
Fragile X Syndrome and other causes of X-Linked mental handicap
Sutherland, G.
;
Gecz, J.
;
Mulley, J.
;
Rimoin, D.
;
Connor, J.
;
Emery, A.
;
Pyeritz, R.
;
Korf, B.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
2000
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Phillips, H.
;
Marini, C.
;
Scheffer, I.
;
Sutherland, G.
;
Mulley, J.
;
Berkovic, S.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, J.
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 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.
2001
Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizures
Wallace, R.
;
Marini, C.
;
Petrou, S.
;
Harkin, L.
;
Bowser, D.
;
Panchal, R.
;
Williams, D.
;
Sutherland, G.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
7
Gecz, J.
6
Scheffer, I.
5
Berkovic, S.
4
Gedeon, A.
4
Wallace, R.
3
Baker, E.
3
Donnelly, A.
3
Phillips, H.
2
Barnett, S.
2
Marini, C.
.
next >
Subject
10
Humans
8
Female
8
Molecular Sequence Data
7
Amino Acid Sequence
7
Male
7
Pedigree
6
Intellectual Disability
4
Adult
4
Base Sequence
4
DNA Mutational Analysis
.
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Date issued
6
2000 - 2007
8
1995 - 1999