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Results 21-30 of 31 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon, B.
;
Thompson, E.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
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.
2012
Quality standards and samples in genetic testing
Ravine, D.
;
Suthers, G.
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.
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.
Discover
Author
15
Gecz, J.
13
et al.
7
Field, M.
6
Haan, E.
5
Jolly, L.
4
Corbett, M.
4
Gardner, A.
4
Hackett, A.
4
Heron, S.
4
Kumar, R.
.
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Subject
29
Humans
27
Female
12
Animals
12
Intellectual Disability
11
Adult
11
Child
11
Pedigree
10
Mice
7
Child, Preschool
5
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