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PreviewIssue DateTitleAuthor(s)
2015Five-year survival of children with chronic critical illness in Australia and New ZealandNamachivayam, S.; Alexander, J.; Slater, A.; Millar, J.; Erickson, S.; Tibballs, J.; Festa, M.; Ganu, S.; Segedin, L.; Schlapbach, L.; Williams, G.; Shann, F.; Butt, W.
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.
2000No evidence for association of 5-HT2A receptor polymorphism with suicideCrawford, J.; Sutherland, G.; Goldney, R.
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.
2014Outcomes of repair of complete atrioventricular septal defect in the current eraXie, O.; Brizard, C.; D'udekem, Y.; Galati, J.; Kelly, A.; Yong, M.; Weintraub, R.; Konstantinov, I.
2015Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyDamiano, J.; Mullen, S.; Hildebrand, M.; Bellows, S.; Lawrence, K.; Arsov, T.; Dibbens, L.; Major, H.; Dahl, H.; Mefford, H.; Darbro, B.; Scheffer, I.; Berkovic, S.
2005Prosaposin deficiency - a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientElleder, M.; Jerabkova, M.; Befekadu, A.; Hrebicek, M.; Berna, L.; Ledvinova, J.; Hulkova, H.; Rosewich, H.; Schymik, N.; Paton, Barbara Cleland; Harzer, K.
2009Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1Carvalho, M.; Pino, M.; Karchin, R.; Beddor, J.; Godinho-Netto, M.; Mesquita, R.; Rodarte, R.; Vaz, D.; Monteiro, V.; Manoukian, S.; Colombo, M.; Ripamonti, C.; Rosenquist, R.; Suthers, G.; Borg, A.; Radice, P.; Grist, S.; Monteiro, A.; Billack, B.