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Results 21-30 of 78 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
2018A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at RiskRedondo, M.J.; Geyer, S.; Steck, A.K.; Sharp, S.; Wentworth, J.M.; Weedon, M.N.; Antinozzi, P.; Sosenko, J.; Atkinson, M.; Pugliese, A.; Oram, R.A.; Type 1 Diabetes TrialNet Study Group,
2010Testicular and paratesticular pathology in children: a 12-year histopathological reviewMarulaiah, M.; Gilhotra, A.; Moore, L.; Boucaut, H.; Goh, D.
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.
2010Chemokine/Chemokine receptor interactions in extramedullary leukaemia of the skin in childhood AML: Differential roles for CCR2, CCR5, CXCR4 and CXCR7Faaij, C.; Willemze, A.; Revesz, T.; Balzarolo, M.; Tensen, C.; Hoogeboom, M.; Vermeer, M.; van Wering, E.; Zwaan, C.; Kaspers, G.; Story, C.; van Halteren, A.; Vossen, J.; Egeler, R.; van Tol, M.; Annels, N.
2013A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXPoeta, L.; Fusco, F.; Drongitis, D.; Shoubridge, C.; Manganelli, G.; Filosa, S.; Paciolla, M.; Courtney, M.; Collombat, P.; Lioi, M.; Gecz, J.; Ursini, M.; Miano, M.
2010Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenonStefanutti, G.; Yee, J.; Sparnon, A.
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.
2010Bone marrow fibrosis and vascular density lack prognostic significance in childhood acute lymphoblastic leukaemiaBaros, A.; de Jong, A.; Manton, N.; Venn, N.; Story, C.; Hodge, G.; Nath, S.; Suppiah, R.; Tapp, H.; Sutton, R.; Revesz, T.
2011A novel method for the nonradiological assessment of ineffective swallowingOmari, T.; Dejaeger, E.; Van Beckevoort, D.; Goeleven, A.; de Cock, P.; Hoffman, I.; Smet, M.; Davidson, G.; Tack, J.; Rommel, N.

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