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
Adelaide Festival of Ideas
Barr Smith Press
Friends of the University of Adelaide Library
Library Publications
Internal documents (Library staff only)
Library images
Library reports and papers
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
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 1-10 of 13 (Search time: 0.002 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
2014
Inactivating mutations in NPC1L1 and protection from coronary heart disease
Stitziel, N.O.
;
Won, H.H.
;
Morrison, A.C.
;
Peloso, G.M.
;
Do, R.
;
Lange, L.A.
;
Fontanillas, P.
;
Gupta, N.
;
Duga, S.
;
Goel, A.
;
Farrall, M.
;
Saleheen, D.
;
Ferrario, P.
;
König, I.
;
Asselta, R.
;
Merlini, P.A.
;
Marziliano, N.
;
Notarangelo, M.F.
;
Schick, U.
;
Auer, P.
;
et al.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
2013
PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer
Day, F.
;
Jorissen, R.
;
Lipton, L.
;
Mouradov, D.
;
Sakthianandeswaren, A.
;
Christie, M.
;
Li, S.
;
Tsui, C.
;
Tie, J.
;
Desai, J.
;
Xu, Z.
;
Molloy, P.
;
Whitehall, V.
;
Leggett, B.
;
Jones, I.
;
McLaughlin, S.
;
Ward, R.
;
Hawkins, N.
;
Ruszkiewicz, A.
;
Moore, J.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2011
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Yokoyama, S.
;
Woods, S.
;
Boyle, G.
;
Aoude, L.
;
MacGregor, S.
;
Zismann, V.
;
Gartside, M.
;
Cust, A.
;
Haq, R.
;
Harland, M.
;
Taylor, J.
;
Duffy, D.
;
Holohan, K.
;
Dutton-Regester, K.
;
Palmer, J.
;
Bonazzi, V.
;
Stark, M.
;
Symmons, J.
;
Law, M.
;
Schmidt, C.
;
et al.
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.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2010
Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Cummings, M.
;
Pearson, S.
;
Arnold, S.
;
Clendenning, M.
;
Walters, R.
;
McKeone, D.
;
Spurdle, A.
;
Hopper, J.
;
Jenkins, M.
;
Phillips, K.
;
Suthers, G.
;
George, J.
;
Goldblatt, J.
;
Muir, A.
;
Tucker, K.
;
Pelzer, E.
;
Gattas, M.
;
Woodall, S.
;
et al.
2016
Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ART
Lambert-Niclot, S.
;
George, E.
;
Pozniak, A.
;
White, E.
;
Schwimmer, C.
;
Jessen, H.
;
Johnson, M.
;
Dunn, D.
;
Perno, C.
;
Clotet, B.
;
Plettenberg, A.
;
Blaxhult, A.
;
Palmisano, L.
;
Wittkop, L.
;
Calvez, V.
;
Marcelin, A.
;
Raffi, F.
;
Dedes, N.
;
Chěne, G.
;
Allavena, C.
;
et al.
Discover
Author
3
Gecz, J.
2
Christie, M.
2
Corbett, M.
2
Day, F.
2
Desai, J.
2
Gardner, A.
2
Hawkins, N.
2
Jones, I.
2
Jorissen, R.
2
Kumar, R.
.
next >
Subject
12
Female
11
Middle Aged
5
Aged
5
Aged, 80 and over
5
Child
5
Young Adult
4
Adolescent
4
Exons
3
Case-Control Studies
3
Child, Preschool
.
next >
Date issued
1
2017
3
2016
2
2015
1
2014
3
2013
1
2011
2
2010