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PreviewIssue DateTitleAuthor(s)
2011De novo SCN1A mutations in migrating partial seizures of infancyCarranza Rojo, D.; Hamiwka, L.; McMahon, J.; Dibbens, L.; Arsov, T.; Suls, A.; Stodberg, T.; Kelley, K.; Wirrell, E.; Appleton, B.; Mackay, M.; Freeman, J.; Yendle, S.; Berkovic, S.; Bienvenu, T.; De Jonghe, P.; Thorburn, D.; Mulley, J.; Mefford, H.; Scheffer, I.
2009Weight gain in early life predicts risk of islet autoimmuity in children with a first-degree relative with type 1 diabetesCouper, J.; Beresford, S.; Hirte, C.; Baghurst, P.; Pollard, A.; Tait, B.; Harrison, L.; Colman, P.
1996Children with hyperimmunoglobulinemia D and periodic fever syndromeGrose, C.; Schnetzer, J.; Ferrante, A.; Vladutiu, A.
2002Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1BWallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.
1995Effect of cefotaxime or ceftriaxone treatment on nasopharyngeal Haemophilus influenzae type b colonization in childrenGoldwater, P.
2001Nationwide study of haemolytic uraemic syndrome: clinical, microbiological, and epidemiological featuresElliott, E.; Robins-Browne, R.; O'Loughlin, E.; Bennett-Wood, V.; Bourke, J.; Henning, P.; Hogg, G.; Knight, J.; Powell, H.; Redmond, D.
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.
2005Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationJensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2010Feeding preterm infants milk with a higher dose of docosahexaenoic acid than that used in current practice does not influence language or behavior in early childhood: a follow-up study of a randomized controlled trialSmithers, L.; Collins, C.; Simmonds, L.; Gibson, R.; McPhee, A.; Makrides, M.