Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Molecular and Biomedical Science
Genetics
Genetics publications
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 17 (Search time: 0.004 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1996
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)
Gedeon, A.
;
Turner, G.
;
Mulley, J.
1996
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
2020
Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance
Thai, H.
;
Gardner, A.
;
Redpath, L.
;
Mattiske, T.
;
Dearsley, O.
;
Shaw, M.
;
Vulto-van Silfhout, A.T.
;
Pfundt, R.
;
Dixon, J.
;
McGaughran, J.
;
Pérez-Jurado, L.A.
;
Gécz, J.
;
Shoubridge, C.
1996
Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndrome
Gedeon, A.
;
Kozman, H.
;
Robinson, H.
;
Pilia, G.
;
Schlessinger, D.
;
Turner, G.
;
Mulley, J.
1996
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
Gedeon, A.
;
Glass, I.
;
Connor, J.
;
Mulley, J.
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.
2011
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
Dibbens, L.
;
Kneen, R.
;
Bayly, M.
;
Heron, S.
;
Arsov, T.
;
Damiano, J.
;
Desai, T.
;
Gibbs, J.
;
McKenzie, F.
;
Mulley, J.
;
Ronan, A.
;
Scheffer, I.
Discover
Author
11
Mulley, J.
6
Gecz, J.
6
Gedeon, A.
6
Sutherland, G.
4
Donnelly, A.
4
Turner, G.
2
Baker, E.
2
Coe, B.
2
et al.
2
Eyre, H.
.
next >
Subject
16
Humans
12
Female
12
Male
8
X Chromosome
6
Chromosome Mapping
6
Pedigree
6
Syndrome
5
Child
5
Genetic Linkage
5
Molecular Sequence Data
.
next >
Date issued
6
2010 - 2020
11
1995 - 1999