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Results 1-10 of 17 (Search time: 0.003 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.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
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.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
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
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Tiller, G.
;
Le Merrer, M.
;
Heuertz, S.
;
Tranebjaerg, L.
;
Chitayat, D.
;
Robertson, S.
;
Glass, I.
;
Savarirayan, R.
;
Cole, W.
;
Rimoin, D.
;
Kousseff, B.
;
Ohashi, H.
;
Zabel, B.
;
Munnich, A.
;
Gecz, J.
;
Mulley, J.
Discover
Author
5
Gecz, J.
5
Mulley, J.
4
Berkovic, S.
4
et al.
4
Scheffer, I.
4
Wallace, R.
3
Dibbens, L.
3
Haan, E.
3
Sutherland, G.
2
Colley, A.
.
next >
Subject
17
Humans
15
Female
12
Pedigree
11
Amino Acid Sequence
8
Base Sequence
8
Mutation
7
Exons
7
Genetic Linkage
7
Syndrome
5
Animals
.
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Date issued
2
2010 - 2015
10
2000 - 2009
5
1995 - 1999