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Issue Date
Title
Author(s)
2015
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
Rosmarin, D.
;
Palles, C.
;
Pagnamenta, A.
;
Kaur, K.
;
Pita, G.
;
Martin, M.
;
Domingo, E.
;
Jones, A.
;
Howarth, K.
;
Freeman-Mills, L.
;
Johnstone, E.
;
Wang, H.
;
Love, S.
;
Scudder, C.
;
Julier, P.
;
Fernández-Rozadilla, C.
;
Ruiz-Ponte, C.
;
Carracedo, A.
;
Castellvi-Bel, S.
;
Castells, A.
;
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.
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, M.
;
Berkovic, S.
;
Dibbens, L.
;
Oliver, K.
;
Maljevic, S.
;
Bayly, M.
;
Joensuu, T.
;
Canafoglia, L.
;
Franceschetti, S.
;
Michelucci, R.
;
Markkinen, S.
;
Heron, S.
;
Hildebrand, M.
;
Andermann, E.
;
Andermann, F.
;
Gambardella, A.
;
Tinuper, P.
;
Licchetta, L.
;
Scheffer, I.
;
Criscuolo, C.
;
et al.
2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Gardner, A.
;
Woenig, J.
;
Jolly, L.
;
Douglas, E.
;
Friend, K.
;
Tan, C.
;
Van Esch, H.
;
Holvoet, M.
;
Raynaud, M.
;
Field, M.
;
Leffler, M.
;
Budny, B.
;
Wisniewska, M.
;
Badura-Stronka, M.
;
Latos-Bieleńska, A.
;
Batanian, J.
;
Rosenfeld, J.
;
et al.
2015
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
Snijders Blok, L.
;
Madsen, E.
;
Juusola, J.
;
Gilissen, C.
;
Baralle, D.
;
Reijnders, M.
;
Venselaar, H.
;
Helsmoortel, C.
;
Cho, M.
;
Hoischen, A.
;
Vissers, L.
;
Koemans, T.
;
Wissink-Lindhout, W.
;
Eichler, E.
;
Romano, C.
;
Van Esch, H.
;
Stumpel, C.
;
Vreeburg, M.
;
Smeets, E.
;
Oberndorff, K.
;
et al.
2015
High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
Rojnueangnit, K.
;
Xie, J.
;
Gomes, A.
;
Sharp, A.
;
Callens, T.
;
Chen, Y.
;
Liu, Y.
;
Cochran, M.
;
Abbott, M.
;
Atkin, J.
;
Babovic-Vuksanovic, D.
;
Barnett, C.
;
Crenshaw, M.
;
Bartholomew, D.
;
Basel, L.
;
Bellus, G.
;
Ben-Shachar, S.
;
Bialer, M.
;
Bick, D.
;
Blumberg, B.
;
et al.
2015
Maternal allopurinol administration during suspected fetal hypoxia: a novel neuroprotective intervention? A multicentre randomised placebo controlled trial
Kaandorp, J.
;
Benders, M.
;
Schuit, E.
;
Rademaker, C.
;
Oudijk, M.
;
Porath, M.
;
Oetomo, S.
;
Wouters, M.
;
van Elburg, R.
;
Franssen, M.
;
Bos, A.
;
de Haan, T.
;
Boon, J.
;
de Boer, I.
;
Rijnders, R.
;
Jacobs, C.
;
Scheepers, L.
;
Gavilanes, D.
;
Bloemenkamp, K.
;
Rijken, M.
;
et al.
2015
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
et al.
2015
Risk stratification with cervical length and fetal fibronectin in women with threatened preterm labor before 34 weeks and not delivering within 7 days
Hermans, F.
;
Bruijn, M.
;
Vis, J.
;
Wilms, F.
;
Oudijk, M.
;
Porath, M.
;
Scheepers, H.
;
Bloemenkamp, K.
;
Bax, C.
;
Cornette, J.
;
Nij Bijvanck, B.
;
Franssen, M.
;
Vandenbussche, F.
;
Kok, M.
;
Grobman, W.
;
Van Der Post, J.
;
Bossuyt, P.
;
Opmeer, B.
;
Mol, B.
;
Schuit, E.
;
et al.
2015
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Woenig, J.
;
Weir, L.
;
Douglas, E.
;
Friend, K.
;
Gardner, A.
;
Shaw, M.
;
Jolly, L.
;
Tan, C.
;
Hunter, M.
;
Hackett, A.
;
Field, M.
;
Palmer, E.
;
Leffler, M.
;
Rogers, C.
;
Boyle, J.
;
Bienek, M.
;
Jensen, C.
;
et al.
Discover
Author
5
Bloemenkamp, K.
4
Corbett, M.
3
Field, M.
3
Franssen, M.
3
Friend, K.
3
Hackett, A.
3
Jolly, L.
3
Kumar, R.
3
Oudijk, M.
3
Porath, M.
.
next >
Subject
5
Humans
3
Female
3
Male
2
Adult
2
Carrier Proteins
2
Chromosomes, Human, X
2
Intellectual Disability
2
Mutation
2
Pedigree
1
Adaptor Proteins, Vesicular Trans...
.
next >