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Results 1-10 of 91 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2004
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation
Christophe-Hobertus, C.
;
Kooy, F.
;
Gecz, J.
;
Abramowicz, M.
;
Holinski-Feder, E.
;
Schwartz, C.
;
Christophe, D.
2008
A novel locus for X-linked congenital cataract on Xq24
Craig, J.
;
Friend, K.
;
Gecz, J.
;
Rattray, K.
;
Trotski, M.
;
Mackey, D.
;
Burdon, K.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2007
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Schwartz, C.
;
Tarpey, P.
;
Lubs, H.
;
Verloes, A.
;
May, M.
;
Risheg, H.
;
Friez, M.
;
Futreal, P.
;
Edkins, S.
;
Teague, J.
;
Briault, S.
;
Skinner, C.
;
Bauer-Carlin, A.
;
Simensin, R.
;
Joseph, S.
;
Jones, J.
;
Gecz, J.
;
Stratton, M.
;
Raymond, F.
;
Stevenson, R.
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.
2021
Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plus
Heron, S.E.
;
Regan, B.M.
;
Harris, R.V.
;
Gardner, A.E.
;
Coleman, M.J.
;
Bennett, M.F.
;
Grinton, B.E.
;
Helbig, K.L.
;
Sperling, M.R.
;
Haut, S.
;
Geller, E.B.
;
Widdess-Walsh, P.
;
Pelekanos, J.T.
;
Bahlo, M.
;
Petrovski, S.
;
Heinzen, E.L.
;
Hildebrand, M.S.
;
Corbett, M.A.
;
Scheffer, I.E.
;
Gecz, J.
;
et al.
2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Jones, J.L.
;
Corbett, M.A.
;
Yeaman, E.
;
Zhao, D.
;
Gecz, J.
;
Gasperini, R.J.
;
Charlesworth, J.C.
;
Mackey, D.A.
;
Elder, J.E.
;
Craig, J.E.
;
Burdon, K.P.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
Discover
Author
13
et al.
11
Turner, G.
10
Corbett, M.
9
Mulley, J.
9
Shaw, M.
8
Haan, E.
8
Jolly, L.
8
Scheffer, I.
7
Berkovic, S.
7
Chelly, J.
.
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Subject
89
Humans
72
Female
47
Mutation
43
Pedigree
34
Intellectual Disability
23
Child
23
Molecular Sequence Data
22
Adult
21
Animals
21
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