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Results 1-10 of 14 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1995
Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys
Gedeon, A.
;
Keinanen, M.
;
Ades, L.
;
Kaarianen, H.
;
Gecz, J.
;
Baker, E.
;
Sutherland, G.
;
Mulley, 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.
2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Corbett, M.
;
Turner, S.
;
Gardner, A.
;
Silver, J.
;
Stankovich, J.
;
Leventer, R.
;
Derry, C.
;
Carroll, R.
;
Ha, T.
;
Scheffer, I.
;
Bahlo, M.
;
Jackson, G.
;
Mackey, D.
;
Berkovic, S.
;
Gecz, J.
2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion
Carroll, R.
;
Shaw, M.
;
Arvio, M.
;
Gardner, A.
;
Kumar, R.
;
Hodgson, B.
;
Heron, S.
;
McKenzie, F.
;
Järvelä, I.
;
Gecz, J.
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.
2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
Gecz, J.
;
Thomas, P.Q.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, J.
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.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
2010
Great expectations: using massively parallel sequencing to solve inherited disorders
Corbett, M.
;
Gecz, J.
Discover
Author
6
Mulley, J.
5
Sutherland, G.
3
Corbett, M.
3
Gardner, A.
3
Gedeon, A.
2
Baker, E.
2
Carroll, R.
2
Donnelly, A.
1
Ades, L.
1
Andersen, U.
.
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Subject
10
Humans
7
Male
6
Female
6
Intellectual Disability
5
Molecular Sequence Data
4
Adult
4
Amino Acid Sequence
4
Base Sequence
3
Adolescent
3
Child
.
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Date issued
7
2010 - 2020
1
2000 - 2009
6
1995 - 1999