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Results 1-10 of 15 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2017
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
Gabriele, M.
;
Vulto-van Silfhout, A.
;
Germain, P.
;
Vitriolo, A.
;
Kumar, R.
;
Douglas, E.
;
Haan, E.
;
Kosaki, K.
;
Takenouchi, T.
;
Rauch, A.
;
Steindl, K.
;
Frengen, E.
;
Misceo, D.
;
Pedurupillay, C.
;
Stromme, P.
;
Rosenfeld, J.
;
Shao, Y.
;
Craigen, W.
;
Schaaf, C.
;
Rodriguez-Buritica, D.
;
et al.
2017
Getting it right when budgets are tight: Using optimal expansion pathways to prioritize responses to concentrated and mixed HIV epidemics
Stuart, R.
;
Kerr, C.
;
Haghparast-Bidgoli, H.
;
Estill, J.
;
Grobicki, L.
;
Baranczuk, Z.
;
Prieto, L.
;
Montañez, V.
;
Reporter, I.
;
Gray, R.
;
Skordis-Worrall, J.
;
Keiser, O.
;
Cheikh, N.
;
Boonto, K.
;
Osornprasop, S.
;
Lavadenz, F.
;
Benedikt, C.
;
Martin-Hughes, R.
;
Hussain, S.
;
Kelly, S.
;
et al.
;
Brañas-Garza, P.
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
2017
Multicenter, International Study of MIC/ MEC Distributions for definition of epidemiological cutoff values for sporothrix species identified by molecular methods
Espinel-Ingroff, A.
;
Abreu, D.P.B.
;
Almeida-Paes, R.
;
Brilhante, R.S.N.
;
Chakrabarti, A.
;
Chowdhary, A.
;
Hagen, F.
;
Córdoba, S.
;
Gonzalez, G.M.
;
Govender, N.P.
;
Guarro, J.
;
Johnson, E.M.
;
Kidd, S.
;
Pereira, S.A.
;
Rodrigues, A.M.
;
Rozental, S.
;
Szeszs, M.W.
;
Ballesté Alaniz, R.
;
Bonifaz, A.
;
Bonfietti, L.X.
;
et al.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
2017
The Stone Age plague and its persistence in Eurasia
Andrades Valtueña, A.
;
Mittnik, A.
;
Key, F.
;
Haak, W.
;
Allmäe, R.
;
Belinskij, A.
;
Daubaras, M.
;
Feldman, M.
;
Jankauskas, R.
;
Janković, I.
;
Massy, K.
;
Novak, M.
;
Pfrengle, S.
;
Reinhold, S.
;
Šlaus, M.
;
Spyrou, M.
;
Szécsényi-Nagy, A.
;
Tõrv, M.
;
Hansen, S.
;
Bos, K.
;
et al.
2017
Proposed primary endpoints for use in clinical trials that compare treatment options for bloodstream infection in adults: a consensus definition
Harris, P.
;
McNamara, J.
;
Paterson, D.
;
Harris, P.
;
McNamara, J.
;
Lye, D.
;
Davis, J.
;
Tong, S.
;
Davis, J.
;
Bernard, L.
;
Cheng, A.
;
Cheng, A.
;
Doi, Y.
;
Fowler, V.
;
Kaye, K.
;
Leibovici, L.
;
Leibovici, L.
;
Lipman, J.
;
Lipman, J.
;
Lipman, J.
;
et al.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
2017
A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
Palmer, E.E.
;
Kumar, R.
;
Gordon, C.T.
;
Shaw, M.
;
Hubert, L.
;
Carroll, R.
;
Rio, M.
;
Murray, L.
;
Leffler, M.
;
Dudding-Byth, T.
;
Oufadem, M.
;
Lalani, S.R.
;
Lewis, A.M.
;
Xia, F.
;
Tam, A.
;
Webster, R.
;
Brammah, S.
;
Filippini, F.
;
Pollard, J.
;
Spies, J.
;
et al.
Discover
Author
2
Stessman, H.
2
Turner, T.
2
Wang, T.
1
Abreu, D.P.B.
1
Alberti, A.
1
Allmäe, R.
1
Almeida-Paes, R.
1
Alt, K.
1
Anderlid, B.
1
Andrades Valtueña, A.
.
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Subject
4
Humans
3
Female
3
Male
2
Animals
2
Autistic Disorder
2
Disease Models, Animal
2
Exome
2
Genetic Predisposition to Disease
2
Mutation
2
Sequence Analysis, DNA
.
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