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Issue Date
Title
Author(s)
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2002
Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Harkin, L.
;
Bowser, D.
;
Dibbens, L.
;
Singh, R.
;
Phillips, F.
;
Wallace, R.
;
Richards, M.
;
Williams, D.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
;
Petrou, 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.
1995
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
Steinlein, O.
;
Mulley, J.
;
Propping, P.
;
Wallace, R.
;
Phillips, H.
;
Sutherland, G.
;
Scheffer, I.
;
Berkovic, S.
Discover
Author
3
Berkovic, S.
3
Mulley, J.
2
Phillips, H.
2
Sutherland, G.
2
Wallace, R.
1
Amaral, D.
1
Baker, C.
1
Bertrand, D.
1
Bosco, P.
1
Bowser, D.
.
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Subject
4
Female
4
Humans
3
Animals
3
Molecular Sequence Data
3
Pedigree
2
Amino Acid Sequence
2
Child
2
Chromosome Mapping
2
Epilepsy, Frontal Lobe
2
Genes, Dominant
.
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Date issued
1
2010 - 2014
2
2000 - 2009
1
1995 - 1999