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Issue Date
Title
Author(s)
2003
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Kalscheuer, V.
;
Tao, J.
;
Donnelly, A.
;
Hollway, G.
;
Schwinger, E.
;
Kubart, S.
;
Menzel, C.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Eyre, H.
;
Harbord, M.
;
Haan, E.
;
Sutherland, G.
;
Ropers, H.
;
Gecz, 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
Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcRI-b
Hulett, M.
;
Pagler, E.
;
Hornby, J.
;
Hogarth, P.
;
Eyre, H.
;
Baker, E.
;
Crawford, J.
;
Sutherland, G.
;
Ohms, S.
;
Parish, C.
2001
TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma
Rae, F.
;
Hooper, J.
;
Eyre, H.
;
Sutherland, G.
;
Nicol, D.
;
Clements, J.
Discover
Author
3
Eyre, H.
3
Mulley, J.
3
Scheffer, I.
2
Berkovic, S.
2
Gecz, J.
2
Wallace, R.
1
Baker, E.
1
Barnett, S.
1
Ben-Zeev, B.
1
Bertrand, D.
.
next >
Subject
5
Amino Acid Sequence
5
Male
3
Animals
3
Base Sequence
3
Chromosome Mapping
3
Mutation
3
Pedigree
3
Sequence Alignment
2
Amino Acid Substitution
2
Genetic Variation
.
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Date issued
1
2003
1
2002
4
2001