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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.
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.
2004Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months oldBelshe, R.; Newman, F.; Tsai, T.; Karron, R.; Reisinger, K.; Roberton, D.; Marshall, H.; Schwartz, R.; King, J.; Henderson, F.; Rodriguez, W.; Severs, J.; Wright, P.; Keyserling, H.; Weinberg, G.; Bromberg, K.; Loh, R.; Sly, P.; McIntyre, P.; Ziegler, 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.
2005CD molecules 2005: human cell differentiation moleculesZola, H.; Swart, B.; Nicholson, I.; Aasted, B.; Bensussan, A.; Boumsell, L.; Buckley, C.; Clark, G.; Drbal, K.; Engel, P.; Hart, D.; Horejsi, V.; Isacke, C.; Macardle, P.; Malavasi, F.; Mason, D.; Olive, D.; Saalmueller, A.; Schlossman, S.; Schwartz-Albiez, R.; et al.