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
University Library
Library Publications
Aurora harvest
Aurora harvest 2
Aurora harvest 3
Aurora harvest 4
Aurora harvest 5
Aurora harvest 6
Aurora harvest 7
Aurora harvest 8
Aurora submissions
Library publications
News / The University of Adelaide Libraries [1993-2001]
NEWSLINE
University of Adelaide Library News [1979-1993]
Untitled
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
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 21-30 of 49 (Search time: 0.002 seconds).
previous
1
2
3
4
5
next
Item hits:
Preview
Issue Date
Title
Author(s)
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
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.
2014
Phenotype-genotype complexities: opening DOORS
Berkovic, S.
;
Gecz, J.
2012
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, J.
;
Huang, L.
;
Winden, K.
;
Lazaro, M.
;
Haan, E.
;
Nelson, J.
;
McGaughran, J.
;
Nguyen, L.
;
Friend, K.
;
Hackett, A.
;
Field, M.
;
Gecz, J.
;
Geschwind, D.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
et al.
2012
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
Shoubridge, C.
;
Tan, M.
;
Seiboth, G.
;
Gecz, 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.
2011
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability
Melko, M.
;
Douguet, D.
;
Bensaid, M.
;
Zongaro, S.
;
Verheggen, C.
;
Gecz, J.
;
Bardoni, B.
2016
Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome
Zhu, F.
;
Wang, F.
;
Yang, X.
;
Zhang, J.
;
Wu, H.
;
Zhang, Z.
;
Zhang, Z.
;
He, X.
;
Zhou, P.
;
Wei, Z.
;
Gecz, J.
;
Cao, Y.
Discover
Author
9
Corbett, M.
9
Haan, E.
9
Jolly, L.
7
Berkovic, S.
7
et al.
7
Nguyen, L.
7
Shoubridge, C.
6
Scheffer, I.
5
Dibbens, L.
5
Gardner, A.
.
next >
Subject
35
Male
33
Female
24
Mutation
19
Animals
19
Intellectual Disability
17
Pedigree
15
Child
15
Mice
13
Phenotype
10
Adult
.
next >
Date issued
2
2017
9
2016
7
2015
5
2014
6
2013
7
2012
4
2011
9
2010