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PreviewIssue DateTitleAuthor(s)
2018Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysisAlbers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2023Pharmacological Emergency management of Agitation in Children and Young people: protocol for a randomised controlled trial of intraMuscular medication (PEAChY-M)Bourke, E.M.; Borland, M.L.; Kochar, A.; George, S.; Shellshear, D.; Jani, S.; Perkins, K.; Tham, D.; Gordon, M.S.; Klein, K.; Prakash, C.; Lee, K.; Davidson, A.; Knott, J.C.; Craig, S.; Babl, F.E.
2016Prenatal fish oil supplementation and allergy: 6-year follow-up of a randomized controlled trialBest, K.P.; Sullivan, T.; Palmer, D.; Gold, M.; Kennedy, D.J.; Martin, J.; Makrides, M.
2023Pharmacological emergency management of agitation in children and young people: protocol for a randomised controlled trial of oral medication (PEAChY-O)Bourke, E.M.; Borland, M.L.; Kochar, A.; George, S.; Shellshear, D.; Jani, S.; Perkins, K.; Tham, D.; Gordon, M.S.; Klein, K.; Prakash, C.; Lee, K.; Davidson, A.; Knott, J.C.; Craig, S.; Babl, F.E.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.