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Issue Date
Title
Author(s)
2012
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Pearson, S.
;
Clendenning, M.
;
Jenkins, M.
;
Win, A.
;
Walters, R.
;
Spring, K.
;
Nagler, B.
;
Pavluk, E.
;
Arnold, S.
;
Goldblatt, J.
;
George, J.
;
Suthers, G.
;
Phillips, K.
;
Hopper, J.
;
Jass, J.
;
Baron, J.
;
Ahnen, D.
;
Thibodeau, S.
;
et al.
2013
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
Reinstein, E.
;
Frentz, S.
;
Morgan, T.
;
Garcia-Minaur, S.
;
Leventer, R.
;
McGillivray, G.
;
Pariani, M.
;
van der Steen, A.
;
Pope, M.
;
Holder-Espinasse, M.
;
Scott, R.
;
Thompson, E.
;
Robertson, T.
;
Coppin, B.
;
Siegel, R.
;
Zurita, M.
;
Rodriguez, J.
;
Morales, C.
;
Rodrigues, Y.
;
Arcas, J.
;
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.
2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Hoischen, A.
;
Van Bon, B.
;
Gilissen, C.
;
Arts, P.
;
van Lier, B.
;
Steehouwer, M.
;
de Vries, P.
;
de Reuver, R.
;
Wieskamp, N.
;
Mortier, G.
;
Devriendt, K.
;
Amorim, M.
;
Revencu, N.
;
Kidd, A.
;
Barbosa, M.
;
Turner, A.
;
Smith, J.
;
Olay, C.
;
Henderson, A.
;
Hayes, I.
;
et al.
2012
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
Nguyen, L.
;
Jolly, L.
;
Shoubridge, C.
;
Chan, W.
;
Huang, L.
;
Laumonnier, F.
;
Raynaud, M.
;
Hackett, A.
;
Field, M.
;
Rodriguez, J.
;
Srivastava, A.
;
Lee, Y.
;
Long, R.
;
Addington, A.
;
Rapaport, J.
;
Suren, S.
;
Hahn, C.
;
Gamble, J.
;
Wilkinson, M.
;
Corbett, M.
;
et al.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2014
IFPA Meeting 2013 Workshop Report I: diabetes in pregnancy, maternal dyslipidemia in pregnancy, oxygen in placental development, stem cells and pregnancy pathology
Abumaree, M.
;
Alahari, S.
;
Albrecht, C.
;
Aye, I.
;
Bainbridge, S.
;
Chauvin, S.
;
Clifton, V.
;
Desoye, G.
;
Ermini, L.
;
Giuffrida, D.
;
Graham, C.
;
Huang, Q.
;
Kalionis, B.
;
Lager, S.
;
Leach, L.
;
Li, Y.
;
Litvack, M.
;
Nuzzo, A.
;
Moretto-Zita, M.
;
O'Tierney-Ginn, P.
;
et al.
2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Eggers, S.
;
Sadedin, S.
;
van den Bergen, J.
;
Robevska, G.
;
Ohnesorg, T.
;
Hewitt, J.
;
Lambeth, L.
;
Bouty, A.
;
Knarston, I.
;
Tan, T.
;
Cameron, F.
;
Werther, G.
;
Hutson, J.
;
O'Connell, M.
;
Grover, S.
;
Heloury, Y.
;
Zacharin, M.
;
Bergman, P.
;
Kimber, C.
;
Brown, J.
;
et al.
2014
Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group
Buitenkamp, T.D.
;
Izraeli, S.
;
Zimmermann, M.
;
Forestier, E.
;
Heerema, N.A.
;
van den Heuvel-Eibrink, M.M.
;
Pieters, R.
;
Korbijn, C.M.
;
Silverman, L.B.
;
Schmiegelow, K.
;
Liang, D.-C.
;
Horibe, K.
;
Arico, M.
;
Biondi, A.
;
Basso, G.
;
Rabin, K.R.
;
Schrappe, M.
;
Cario, G.
;
Mann, G.
;
Morak, M.
;
et al.
2012
Improved surgical safety after laparoscopic compared to open surgery for apparent early stage endometrial cancer: results from a randomised controlled trial
Obermair, A.
;
Janda, M.
;
Baker, J.
;
Kondalsamy-Chennakesavan, S.
;
Brand, A.
;
Hogg, R.
;
Jobling, T.W.
;
Land, R.
;
Manolitsas, T.
;
Nascimento, M.
;
Neesham, D.
;
Nicklin, J.L.
;
Oehler, M.K.
;
Otton, G.
;
Perrin, L.
;
Salfinger, S.
;
Hammond, I.
;
Leung, Y.
;
Sykes, P.
;
Ngan, H.
;
et al.
Discover
Author
12
Porath, M.
9
Bloemenkamp, K.
8
Field, M.
8
Opmeer, B.
7
Corbett, M.
7
Gecz, J.
7
Hackett, A.
7
Kwee, A.
7
Mol, B.
7
van Pampus, M.
.
next >
Subject
39
Humans
31
Female
23
Male
17
Adult
14
Mutation
10
Child
10
Pregnancy
9
Pedigree
8
Child, Preschool
8
Infant, Newborn
.
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Date issued
1
2019
6
2018
4
2017
6
2016
14
2015
8
2014
10
2013
11
2012
8
2011
17
2010
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