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 13 (Search time: 0.003 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
1996
Fragile X Syndrome and other X-linked Causes of Mental Handicap
Sutherland, G.
;
Mulley, J.
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.
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.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
2016
Evidence for and against a pathogenic role of reduced γ-secretase activity in familial Alzheimer's disease
Jayne, T.
;
Newman, M.
;
Verdile, G.
;
Sutherland, G.
;
Münch, G.
;
Musgrave, I.
;
Moussavi Nik, S.
;
Lardelli, M.
;
Murphy, M.
1997
Dynamic mutation: possible mechanisms and significance in human disease
Richards, R.
;
Sutherland, G.
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.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
1999
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7
Settasatian, C.
;
Whitmore, S.
;
Crawford, J.
;
Bilton, R.
;
Cleton-Jansen, A.M.
;
Sutherland, G.
;
Callen, D.
Discover
Author
8
Mulley, J.
5
Gecz, J.
3
Baker, E.
3
Donnelly, A.
3
Gedeon, A.
3
Richards, R.
2
Callen, D.
2
Eyre, H.
2
Haan, E.
1
Ades, L.
.
next >
Subject
10
Humans
7
Molecular Sequence Data
6
Female
6
Intellectual Disability
6
Male
5
Amino Acid Sequence
4
Base Sequence
4
Pedigree
3
Adult
3
Alternative Splicing
.
next >
Date issued
1
2010 - 2016
12
1995 - 1999