Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 81 (Search time: 0.006 seconds).
Item hits:
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.
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.
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.
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.
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.
2012Improved surgical safety after laparoscopic compared to open surgery for apparent early stage endometrial cancer: results from a randomised controlled trialObermair, A.; Janda, M.; Baker, J.; Kondalsamy-Chennakesavan, S.; Brand, A.; Hogg, R.; Jobling, T.W.; Land, R.; Manolitsas, T.; Nascimento, M.; Neesham, D.; Nicklin, J.L.; Oehler, M.K.; Otton, G.; Perrin, L.; Salfinger, S.; Hammond, I.; Leung, Y.; Sykes, P.; Ngan, H.; et al.
2011Deregulation of MYCN, LIN28B and LET7 in a molecular subtype of aggressive high-grade serous ovarian cancersHelland, Å.; Anglesio, M.S.; George, J.; Cowin, P.A.; Johnstone, C.N.; House, C.M.; Sheppard, K.E.; Etemadmoghadam, D.; Melnyk, N.; Rustgi, A.K.; Phillips, W.A.; Johnsen, H.; Holm, R.; Kristensen, G.B.; Birrer, M.J.; Australian Ovarian Cancer Study Group; Pearson, R.B.; Børresen-Dale, A.-.L.; Huntsman, D.G.; deFazio, A.; et al.