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Results 11-19 of 19 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2012
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, J.
;
Huang, L.
;
Winden, K.
;
Lazaro, M.
;
Haan, E.
;
Nelson, J.
;
McGaughran, J.
;
Nguyen, L.
;
Friend, K.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
;
Geschwind, D.
2013
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, L.
;
Kim, H.
;
Rosenfeld, J.
;
Shen, Y.
;
Gusella, J.
;
Lacassie, Y.
;
Layman, L.
;
Shaffer, L.
;
Gecz, J.
2012
New mutations and sporadic intellectual disability
Gecz, J.
;
Haan, E.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
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.
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.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2018
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity
Kolc, K.
;
Sadleir, L.
;
Scheffer, I.
;
Ivancevic, A.
;
Roberts, R.
;
Pham, D.
;
Gecz, J.
Discover
Author
6
Haan, E.
5
Hackett, A.
5
Nguyen, L.
4
et al.
4
Jolly, L.
4
Shoubridge, C.
3
Field, M.
3
Gardner, A.
2
Berkovic, S.
2
Bernier, R.
.
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Subject
18
Female
13
Mutation
8
Animals
7
Mice
6
Child
6
Pedigree
5
Adolescent
5
Adult
5
Carrier Proteins
5
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