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 31-40 of 57 (Search time: 0.006 seconds).
previous
1
2
3
4
5
6
next
Item hits:
Preview
Issue Date
Title
Author(s)
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.
2011
Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases
Lawlor, K.
;
O'Keefe, L.
;
Samaraweera, S.
;
van Eyk, C.
;
McLeod, C.
;
Maloney, C.
;
Dang, T.
;
Suter, C.
;
Richards, R.
1998
Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Mulley, J.
;
Saar, K.
;
Hewitt, G.
;
Rueschendorf, F.
;
Phillips, H.
;
Colley, A.
;
Sillence, D.
;
Reis, A.
;
Wilson, M.
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
Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease
van Eyk, C.
;
McLeod, C.
;
O'Keefe, L.
;
Richards, R.
1997
Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2
Horwitz, M.
;
Benson, K.
;
Li, F.Q.
;
Wolff, J.
;
Leppert, M.
;
Hobson, L.
;
Mangelsdorf, M.
;
Yu, S.
;
Hewett, D.
;
Richards, R.
;
Raskind, W.
1998
A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), & enhanced MYC expression in the absence of gene amplification.
Kees, U.
;
Spagnolo, D.
;
Hallam, L.
;
Ford, J.
;
Ranford, P.
;
Baker, D.
;
Callen, D.
;
Biegel, J.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
et al.
1996
A novel X-linked gene, G4.5. is responsible for Barth Syndrome
Bione, S.
;
D'Adamo, P.
;
Maestrini, E.
;
Gedeon, A.
;
Bolhuis, P.
;
Toniolo, D.
Discover
Author
16
Mulley, J.
9
Gedeon, A.
7
Callen, D.
7
et al.
7
Gecz, J.
6
Eyre, H.
6
Richards, R.
6
Sutherland, G.
5
Colley, A.
5
Haan, E.
.
next >
Subject
49
Humans
45
Female
17
Animals
17
Chromosome Mapping
17
Pedigree
14
Molecular Sequence Data
13
X Chromosome
12
Genetic Linkage
12
Intellectual Disability
10
Amino Acid Sequence
.
next >
Date issued
6
2020 - 2022
18
2010 - 2019
2
2000 - 2009
31
1995 - 1999