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Results 1-9 of 9 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
Domingo, D.
;
Nawaz, U.
;
Corbett, M.
;
Espinoza, J.L.
;
Tatton-Brown, K.
;
Coman, D.
;
Wilkinson, M.F.
;
Gecz, J.
;
Jolly, L.A.
2016
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Moey, C.
;
Hinze, S.
;
Brueton, L.
;
Morton, J.
;
McMullan, D.
;
Kamien, B.
;
Barnett, C.
;
Brunetti-Pierri, N.
;
Nicholl, J.
;
Gecz, J.
;
Shoubridge, C.
2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal
Haines, B.
;
Hughes, J.
;
Corbett, M.
;
Shaw, M.
;
Innes, J.
;
Patel, L.
;
Gecz, J.
;
Clayton-Smith, J.
;
Thomas, P.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Haan, E.
;
Gecz, J.
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.
2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Corbett, M.A.
;
Bellows, S.T.
;
Li, M.
;
Carroll, R.
;
Micallef, S.
;
Carvill, G.L.
;
Myers, C.T.
;
Howell, K.B.
;
Maljevic, S.
;
Lerche, H.
;
Gazina, E.V.
;
Mefford, H.C.
;
Bahlo, M.
;
Berkovic, S.F.
;
Petrou, S.
;
Scheffer, I.E.
;
Gecz, J.
Discover
Author
3
Corbett, M.
2
et al.
2
Haan, E.
2
Hughes, J.
2
Thomas, P.
1
Afawi, Z.
1
Ahmed, S.
1
Ali, A.
1
Archer, H.
1
Bahlo, M.
.
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Subject
9
Humans
8
Male
5
Child
5
Female
5
Pedigree
4
Mutation
3
Adult
3
Infant, Newborn
3
Molecular Sequence Data
2
Adolescent
.
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Date issued
6
2010 - 2020
3
2004 - 2009