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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.
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; 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.
2007The Women's international study of long-duration oestrogen after menopause (WISDOM): a randomised controlled trialVickers, M.; Martin, J.; Meade, T.; Wilkes, H.; Ford, D.; Walgrove, A.; Arasaratnum, N.; Collins, N.; Furness, P.; Ghali, M.; Gordon, E.; Huppert, F.; Islam, Z.; Knott, C.; Meredith, S.; Prince, M.; Purdon, S.; Richards, M.; Taylor, L.; Welton, A.; et al.
2007IMS Updated recommendations on postmenopausal hormone therapyAlbertazzi, P.; Barlow, D.; Berry, E.; Birkhauser, M.; Bocker, W.; Brincat, M.; Burger, H.; Christiansen, C.; de Villiers, T.; Foidan, J.; Gambacciani, M.; Genazzani, A.; Henderson, V.; Huang, K.; Huber, J.; Klutt, C.; Limpaphayom, K.; Lobo, R.; Lumsden, M.; MacLennan, A.; 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.