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Results 11-17 of 17 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2010
Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Shoubridge, C.
;
Tan, M.
;
Fullston, T.
;
Cloosterman, D.
;
Coman, D.
;
McGillivray, G.
;
Mancini, G.
;
Kleefstra, T.
;
Gecz, J.
2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Jensen, L.
;
Bartenschlager, H.
;
Rujirabanjerd, S.
;
Tzschach, A.
;
Numann, A.
;
Janecke, A.
;
Sporle, R.
;
Stricker, S.
;
Raynaud, M.
;
Nelson, J.
;
Hackett, A.
;
Fryns, J.
;
Chelly, J.
;
de Brouwer, A.
;
Hamel, B.
;
Gecz, J.
;
Ropers, H.
;
Kuss, A.
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.
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.
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Author
4
Fullston, T.
4
Shoubridge, C.
3
Chelly, J.
3
Hackett, A.
3
Raynaud, M.
3
Ropers, H.
3
Scheffer, I.
3
Stratton, M.
3
Tarpey, P.
3
Turner, G.
.
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5
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5
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4
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4
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Epilepsy
3
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