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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2001
The protein tyrosine phosphatase TCPTP suppresses the tumorigenicity of glioblastoma cells expressing a mutant epidermal growth factor receptor
Klingler-Hoffmann, M.
;
Fodero-Tavoletti, M.
;
Mishima, K.
;
Narita, Y.
;
Cavenee, W.
;
Furnari, F.
;
Huang, H.
;
Tiganis, T.
2003
Nova regulates GABA(A) receptor gamma 2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer
Dredge, B.
;
Darnell, R.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2004
Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV
Ward, T.
;
Valberg, S.
;
Adelson, D.
;
Abbey, C.
;
Binns, M.
;
Mickelson, J.
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2001
Glycosidase active site mutations in human a-L-iduronidase
Brooks, D.
;
Fabrega, S.
;
Hein, L.
;
Parkinson, E.
;
Durand, P.
;
Yogalingam, G.
;
Matte, U.
;
Giugliani, R.
;
Dasvarma, A.
;
Eslahpazire, J.
;
Henrissat, B.
;
Mornon, J.
;
Hopwood, J.
;
Lehn, P.
2008
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity
Nornes, S.
;
Newman, M.
;
Verdile, G.
;
Wells, S.
;
Stoick-Cooper, C.
;
Tucker, B.
;
Frederich-Sleptsova, I.
;
Martins, R.
;
Lardelli, M.
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.
Discover
Author
4
Gecz, J.
1
Abbey, C.
1
Abidi, F.
1
Adelson, D.
1
Archer, H.
1
Barbi, G.
1
Bennetts, B.
1
Berkovic, S.
1
Bertrand, D.
1
Billson, F.
.
next >
Subject
7
Molecular Sequence Data
6
DNA Primers
6
Mice
5
Cell Line
4
Amino Acid Sequence
4
Exons
4
Female
4
Male
3
Blotting, Western
3
DNA Mutational Analysis
.
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Date issued
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2009
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2008
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2006
3
2004
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2003
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2001