Adelaide Research & Scholarship: Search

Search

Results 1-10 of 14 (Search time: 0.004 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2014	Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing	Buchanan, D.; Tan, Y.; Walsh, M.; Clendenning, M.; Metcalf, A.; Ferguson, K.; Arnold, S.; Thompson, B.; Lose, F.; Parsons, M.; Walters, R.; Pearson, S.; Cummings, M.; Oehler, M.; Blomfield, P.; Quinn, M.; Kirk, J.; Stewart, C.; Obermair, A.; Young, J.; et al.
	2011	17-alpha-hydroxyprogesterone caproate for the prevention of adverse neonatal outcome in multiple pregnancies: A randomized controlled trial	Lim, A.; Schuit, E.; Bloemenkamp, K.; Bernardus, R.; Duvekot, J.; Erwich, J.; van Eyck, J.; Groenwold, R.; Hasaart, T.; Hummel, P.; Kars, M.; Kwee, A.; van Oirschot, C.; van Pampus, M.; Papatsonis, D.; Porath, M.; Spaanderman, M.; Willekes, C.; Wilpshaar, J.; Mol, B.; 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.
	2012	Induction of labor versus expectant management in women with preterm prelabor rupture of membranes between 34 and 37 weeks: a randomized controlled trial	van der Ham, D.; Vijgen, S.; Nijhuis, J.; van Beek, J.; Opmeer, B.; Mulder, A.; Moonen, R.; Groenewout, M.; van Pampus, M.; Mantel, G.; Bloemenkamp, K.; van Wijngaarden, W.; Sikkema, M.; Haak, M.; Pernet, P.; Porath, M.; Molkenboer, J.; Kuppens, S.; Kwee, A.; Kars, M.; et al.; Middleton, P.
	2010	Induction versus expectant monitoring for intrauterine growth restriction at term: randomised equivalence trial (DIGITAT)	Boers, K.; Vijgen, S.; Bijlenga, D.; van der Post, J.; Bekedam, D.; Kwee, A.; van der Salm, P.; van Pampus, M.; Spaanderman, M.; de Boer, K.; Duvekot, J.; Bremer, H.; Hasaart, T.; Delemarre, F.; Bloemenkamp, K.; van Meir, C.; Willekes, C.; Wijnen, H.; Rijken, M.; le Cessie, S.; 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	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.
	2016	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes	Hu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; 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.
	2010	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase	Harmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.