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Results 1-10 of 27 (Search time: 0.004 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.
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
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review
Pham, R.
;
Mol, B.W.
;
Gecz, J.
;
MacLennan, A.H.
;
MacLennan, S.C.
;
Corbett, M.A.
;
van Eyk, C.L.
;
Webber, D.L.
;
Palmer, L.J.
;
Berry, J.G.
2020
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Kolc, K.L.
;
Sadleir, L.G.
;
Depienne, C.
;
Marini, C.
;
Scheffer, I.E.
;
Møller, R.S.
;
Trivisano, M.
;
Specchio, N.
;
Pham, D.
;
Kumar, R.
;
Roberts, R.
;
Gecz, J.
2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, M.E.K.
;
Martin, H.C.
;
Rice, D.L.
;
Gallone, G.
;
Gordon, S.
;
Kelemen, M.
;
McAloney, K.
;
McRae, J.
;
Radford, E.J.
;
Yu, S.
;
Gecz, J.
;
Martin, N.G.
;
Wright, C.F.
;
Fitzpatrick, D.R.
;
Firth, H.V.
;
Hurles, M.E.
;
Barrett, J.C.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
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.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2003
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
Gecz, J.
;
Shaw, M.
;
Bellon, J.
;
de Barros Lopes, M.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
Discover
Author
5
Haan, E.
3
Berkovic, S.
3
Kumar, R.
3
Nguyen, L.
3
Scheffer, I.
2
Chelly, J.
2
et al.
2
Fryns, J.
2
Gedeon, A.
2
Hamel, B.
.
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Subject
20
Male
13
Mutation
12
Female
11
Intellectual Disability
6
Animals
6
Child
6
Pedigree
6
Transcription Factors
5
Carrier Proteins
5
Genetic Linkage
.
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Date issued
16
2010 - 2020
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2000 - 2009