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PreviewIssue DateTitleAuthor(s)
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
2019Preferred learning modalities and practice for critical skills: a global survey of paediatric emergency medicine cliniciansCraig, S.S.; Auerbach, M.; Cheek, J.A.; Babl, F.E.; Oakley, E.; Nguyen, L.; Rao, A.; Dalton, S.; Lyttle, M.D.; Mintegi, S.; Nagler, J.; Mistry, R.D.; Dixon, A.; Rino, P.; Kohn-Loncarica, G.; Dalziel, S.R.; Tzimenatos, L.; Mistry, R.; Brown, K.; Powell, E.; et al.
2014Tumor 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 testingBuchanan, 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.
201117-alpha-hydroxyprogesterone caproate for the prevention of adverse neonatal outcome in multiple pregnancies: A randomized controlled trialLim, 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.
2018Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysisAlbers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-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.
2012Induction of labor versus expectant management in women with preterm prelabor rupture of membranes between 34 and 37 weeks: a randomized controlled trialvan 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.
2010Induction 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.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, 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.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, 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.