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Issue Date
Title
Author(s)
2012
The inSIGHT study: costs and effects of routine hysteroscopy prior to a first IVF treatment cycle. A randomised controlled trial
Smit, J.
;
Kasius, J.
;
Eijkemans, M.
;
Koks, C.
;
van Golde, R.
;
Oosterhuis, G.
;
Nap, A.
;
Scheffer, G.
;
Manger, P.
;
Hoek, A.
;
Kaplan, M.
;
Schoot, B.
;
van Heusden, A.
;
Kuchenbecker, W.
;
Perquin, D.
;
Fleischer, K.
;
Kaaijk, E.
;
Sluijmer, A.
;
Friederich, J.
;
Laven, J.
;
et al.
2013
Induction of labour with a Foley catheter or oral misoprostol at term: The PROBAAT-II study, a multicentre randomised controlled trial
Ten Eikelder, M.
;
Neervoort, F.
;
Oude Rengerink, K.
;
Jozwiak, M.
;
de Leeuw, J.
;
de Graaf, I.
;
van Pampus, M.
;
Franssen, M.
;
Oudijk, M.
;
van der Salm, P.
;
Woiski, M.
;
Pernet, P.
;
Feitsma, A.
;
van Vliet, H.
;
Porath, M.
;
Roumen, F.
;
van Beek, E.
;
Versendaal, H.
;
Heres, M.
;
Mol, B.
;
et al.
2010
Antenatal allopurinol for reduction of birth asphyxia induced brain damage (ALLO-Trial); a randomized double blind placebo controlled multicenter study
Kaandorp, J.
;
Benders, M.
;
Rademaker, C.
;
Torrance, H.
;
Oudijk, M.
;
de Haan, T.
;
Bloemenkamp, K.
;
Rijken, M.
;
van Pampus, M.
;
Bos, A.
;
Porath, M.
;
Bambang Oetomo, S.
;
Willekes, C.
;
Danilo Gavilanes, A.
;
Wouters, M.
;
van Elburg, R.
;
Huisjes, A.
;
Bakker, S.
;
van Meir, C.
;
von Lindern, J.
;
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.
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.
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.
2012
Identification of cases with adverse neonatal outcome monitored by cardiotocography versus ST analysis: secondary analysis of a randomized trial
Westerhuis, M.
;
Porath, M.
;
Becker, J.
;
Van den Akker, E.
;
van Beek, E.
;
van Dessel, H.
;
Drogtrop, A.
;
van Geijn, H.
;
Graziosi, G.
;
Groenendaal, F.
;
van Lith, J.
;
Mol, B.
;
Moons, K.
;
Nijhuis, J.
;
Oei, S.
;
Oosterbaan, H.
;
Rijnders, R.
;
Schuitemaker, N.
;
Wijnberger, L.
;
Willekes, C.
;
et al.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
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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