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Results 11-20 of 40 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
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
Developmental disorders: deciphering exomes on a grand scale
Gecz, J.
;
Corbett, M.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
Discover
Author
9
Jolly, L.
7
Berkovic, S.
7
et al.
6
Corbett, M.
6
Haan, E.
6
Scheffer, I.
5
Dibbens, L.
5
Gardner, A.
5
Hackett, A.
4
Homan, C.
.
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Subject
38
Humans
38
Male
22
Mutation
18
Intellectual Disability
15
Animals
14
Pedigree
13
Child
11
Mice
10
Adult
10
Phenotype
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