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Results 51-60 of 60 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
2013
CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling
Starokadomskyy, P.
;
Gluck, N.
;
Li, H.
;
Chen, B.
;
Wallis, M.
;
Maine, G.
;
Mao, X.
;
Zaidi, I.
;
Hein, M.
;
McDonald, F.
;
Lenzner, S.
;
Zecha, A.
;
Ropers, H.
;
Kuss, A.
;
McGaughran, J.
;
Gecz, J.
;
Burstein, E.
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.
2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
White, R.
;
Ho, G.
;
Schmidt, S.
;
Scheffer, I.
;
Fischer, A.
;
Yendle, S.
;
Bienvenu, T.
;
Nectoux, J.
;
Ellaway, C.
;
Darmanian, A.
;
Tong, X.
;
Cloosterman, D.
;
Bennetts, B.
;
Kalra, V.
;
Fullston, T.
;
Gecz, J.
;
Cox, T.
;
Christodoulou, J.
2010
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability
Shoubridge, C.
;
Walikonis, R.
;
Gecz, J.
;
Harvey, R.
2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, S.
;
Rooms, L.
;
Rainger, J.
;
Taylor, M.
;
Bengani, H.
;
Wilson, D.
;
Chilamakuri, C.
;
Morrison, H.
;
Vandeweyer, G.
;
Reyniers, E.
;
Douglas, E.
;
Thompson, G.
;
Haan, E.
;
Gecz, J.
;
FitzPatrick, D.
;
Kooy, R.
;
Pearson, C.
2012
Polyalanine tract disorders and neurocognitive phenotypes
Shoubridge, C.
;
Gecz, J.
;
Hannan, A.
2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Corbett, M.A.
;
Dudding-Byth, T.
;
Crock, P.A.
;
Botta, E.
;
Christie, L.M.
;
Nardo, T.
;
Caligiuri, G.
;
Hobson, L.
;
Boyle, J.
;
Mansour, A.
;
Friend, K.L.
;
Crawford, J.
;
Jackson, G.
;
Vandeleur, L.
;
Hackett, A.
;
Tarpey, P.
;
Stratton, M.R.
;
Turner, G.
;
Gecz, J.
;
Field, M.
2011
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
Mulley, J.C.
;
Heron, S.E.
;
Wallace, R.H.
;
Gecz, J.
;
Dibbens, L.M.
2010
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
Hattersley, K.
;
Laurie, K.
;
Liebelt, J.
;
Gecz, J.
;
Durkin, S.
;
Craig, J.
;
Burden, K.
Discover
Author
12
Shoubridge, C.
10
Corbett, M.
10
Haan, E.
10
Hackett, A.
8
Field, M.
8
Nguyen, L.
7
et al.
7
Raynaud, M.
7
Shaw, M.
6
Chelly, J.
.
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Subject
32
Humans
22
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20
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17
Mutation
13
Animals
12
Intellectual Disability
11
Child
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Mice
10
Phenotype
8
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