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PreviewIssue DateTitleAuthor(s)
2015A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypeTerhal, P.; Nievelstein, R.; Verver, E.; Topsakal, V.; van Dommelen, P.; Hoornaert, K.; Le Merrer, M.; Zankl, A.; Simon, M.; Smithson, S.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; van der Hout, A.; Veenstra-Knol, H.; Herkert, J.; et al.
2018The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registryGirschick, H.; Finetti, M.; Orlando, F.; Schalm, S.; Insalaco, A.; Ganser, G.; Nielsen, S.; Herlin, T.; Koné-Paut, I.; Martino, S.; Cattalini, M.; Anton, J.; Al-Mayouf, S.; Hofer, M.; Quartier, P.; Boros, C.; Kuemmerle-Deschner, J.; Pires Marafon, D.; Alessio, M.; Schwarz, T.; et al.
2015High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlationRojnueangnit, 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.
2010Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trialJanda, M.; Gebski, V.; Brand, A.; Hogg, R.; Jobling, T.; Land, R.; Manolitsas, T.; McCartney, A.; Nascimento, M.; Neesham, D.; Nicklin, J.; Oehler, M.; Otton, G.; Perrin, L.; Salfinger, S.; Hammond, I.; Leung, Y.; Walsh, T.; Sykes, P.; Ngan, H.; et al.
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, 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.
2013Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AReinstein, 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.
2014Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study groupBuitenkamp, 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.
2010De novo mutations of SETBP1 cause Schinzel-Giedion syndromeHoischen, 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.
2010Maternal and fetal mortality and complication s associated with cesarean section deliveries in teaching hospitalsChongsuvivatwong, V.; Bachtiar, H.; Chowdhury, M.; Fernando, S.; Suwanrath, C.; Kor-anantakul, O.; Tuan, L.; Lim, A.; Lumbiganon, P.; Manandhar, B.; Muchtar, M.; Nahar, L.; Nguyen, T.; Fang, P.; Prasertcharoensuk, W.; Radnaabarzar, E.; Sibuea, D.; Than, K.; Tharnpaisan, P.; Tran, T.; et al.
2012Cigarette smoking and pancreatic cancer: an analysis from the International Pancreatic Cancer Case-Control Consortium (Panc4)Bosetti, C.; Lucenteforte, E.; Silverman, D.; Petersen, G.; Bracci, P.; Ji, B.; Negri, E.; Li, D.; Risch, H.; Olson, S.; Gallinger, S.; Miller, A.; Bueno-de-Mesquita, H.; Talamini, R.; Polesel, J.; Ghadirian, P.; Baghurst, P.; Zatonski, W.; Fontham, E.; Bamlet, W.; et al.