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Results 21-30 of 33 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
Hopwood, J.
2010
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
McIntosh, A.
;
McMahon, J.
;
Dibbens, L.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
;
Berkovic, S.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
2005
Early onset seizures and Rett-like features associated with mutations in CDKL5
Evans, J.
;
Archer, H.
;
Colley, J.
;
Ravn, K.
;
Nielsen, J.
;
Kerr, A.
;
Williams, E.
;
Christodoulou, J.
;
Gecz, J.
;
Jardine, P.
;
Wright, M.
;
Pilz, D.
;
Lazarou, L.
;
Cooper, D.
;
Sampson, J.
;
Butler, R.
;
Whatley, S.
;
Clarke, A.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
2011
Screening patients referred to a metabolic clinic for lysosomal storage disorders
Fuller, M.
;
Tucker, J.
;
Lang, D.
;
Dean, C.
;
Fietz, M.
;
Meikle, P.
;
Hopwood, J.
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
2006
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Lugtenberg, D.
;
Yntema, H.
;
Banning, M.
;
Oudakker, A.
;
Firth, H.
;
Willatt, L.
;
Raynaud, M.
;
Kleefstra, T.
;
Fryns, J.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
van Reeuwijk, J.
;
Nabuurs, S.
;
de Vries, B.
;
Hamel, B.
;
de Brouwer, A.
;
van Bokhoven, H.
2011
De novo SCN1A mutations in migrating partial seizures of infancy
Carranza Rojo, D.
;
Hamiwka, L.
;
McMahon, J.
;
Dibbens, L.
;
Arsov, T.
;
Suls, A.
;
Stodberg, T.
;
Kelley, K.
;
Wirrell, E.
;
Appleton, B.
;
Mackay, M.
;
Freeman, J.
;
Yendle, S.
;
Berkovic, S.
;
Bienvenu, T.
;
De Jonghe, P.
;
Thorburn, D.
;
Mulley, J.
;
Mefford, H.
;
Scheffer, I.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
Discover
Author
11
Gecz, J.
10
et al.
7
Scheffer, I.
6
Berkovic, S.
6
Hopwood, J.
5
Dibbens, L.
5
Haan, E.
5
Mulley, J.
3
Christodoulou, J.
3
Field, M.
.
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Subject
33
Humans
27
Male
22
Female
20
Child, Preschool
19
Adult
16
Adolescent
12
Infant
10
Pedigree
8
DNA Mutational Analysis
8
Intellectual Disability
.
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Date issued
13
2010 - 2018
15
2000 - 2009
5
1997 - 1999