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Results 21-29 of 29 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
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.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2010
Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Cummings, M.
;
Pearson, S.
;
Arnold, S.
;
Clendenning, M.
;
Walters, R.
;
McKeone, D.
;
Spurdle, A.
;
Hopper, J.
;
Jenkins, M.
;
Phillips, K.
;
Suthers, G.
;
George, J.
;
Goldblatt, J.
;
Muir, A.
;
Tucker, K.
;
Pelzer, E.
;
Gattas, M.
;
Woodall, S.
;
et al.
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.
2013
In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation
Hansford, J.
;
Pal, M.
;
Poplawski, N.
;
Haan, E.
;
Boog, B.
;
Ferrante, A.
;
Davis, J.
;
Niemela, J.
;
Rao, V.
;
Suppiah, R.
2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Frints, S.G.M.
;
Ozanturk, A.
;
RodrÃguez Criado, G.
;
Grasshoff, U.
;
de Hoon, B.
;
Field, M.
;
Manouvrier-Hanu, S.
;
E Hickey, S.
;
Kammoun, M.
;
Gripp, K.W.
;
Bauer, C.
;
Schroeder, C.
;
Toutain, A.
;
Mihalic Mosher, T.
;
Kelly, B.J.
;
White, P.
;
Dufke, A.
;
Rentmeester, E.
;
Moon, S.
;
Koboldt, D.C.
;
et al.
2017
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
Hinze, S.
;
Jackson, M.
;
Lie, S.
;
Jolly, L.
;
Field, M.
;
Barry, S.
;
Harvey, R.
;
Shoubridge, C.
Discover
Author
14
Gecz, J.
11
et al.
6
Haan, E.
5
Field, M.
5
Jolly, L.
5
Scheffer, I.
4
Berkovic, S.
4
Schwartz, C.
4
Shoubridge, C.
3
Dibbens, L.
.
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Subject
27
Humans
27
Male
11
Animals
11
Child
11
Pedigree
10
Adult
10
Intellectual Disability
9
Mice
6
Amino Acid Sequence
6
Child, Preschool
.
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