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PreviewIssue DateTitleAuthor(s)
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
2012Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delayLynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
2012Comparison of intraabdominal abscess formation after laparoscopic and open appendicectomies in childrenNataraja, R.; Teague, W.; Galea, J.; Moore, L.; Haddad, M.; Tsang, T.; Khurana, S.; Clarke, S.
2012Safety, immunogenicity, and tolerability of meningococcal serogroup B bivalent recombinant lipoprotein 2086 vaccine in healthy adolescents: a randomised, single-blind, placebo-controlled, phase 2 trialRichmond, P.; Marshall, H.; Nissen, M.; Jiang, Q.; Jansen, K.; Garces-Sanchez, M.; Martinon-Torres, F.; Beeslaar, J.; Szenborn, L.; Wysocki, J.; Eiden, J.; Harris, S.; Jones, T.; Perez, J.
2012Differential diagnosis of paediatric bone pain: acute lymphoblastic leukemiavan der Have, N.; Nath, S.; Story, C.; Tapp, H.; Nicola, C.; Moore, S.; Sutton, R.; Revesz, T.
2012Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndromeWorthley, D.; Phillips, K.; Wayte, N.; Schrader, K.; Healey, S.; Kaurah, P.; Shulkes, A.; Grimpen, F.; Clouston, A.; Moore, D.; Cullen, D.; Ormonde, D.; Mounkley, D.; Wen, X.; Lindor, N.; Carniero, F.; Huntsman, D.; Chenevix-Trench, G.; Suthers, G.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
2012Prevention of bone growth defects, increased bone resorption and marrow adiposity with folinic acid in rats receiving long-term methotrexateFan, C.; Foster, B.; Hui, S.; Xian, C.; Heymann, D.
2012Developing adolescent-specific health state values for economic evaluation: an application of profile case best-worst scaling to the child health utility 9DRatcliffe, J.; Flynn, T.; Terlich, F.; Stevens, K.; Brazier, J.; Sawyer, M.

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