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PreviewIssue DateTitleAuthor(s)
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.
2015Brain structural and microstructural alterations associated with cerebral palsy and motor impairments in adolescents born extremely preterm and/or extremely low birthweightKelly, C.E.; Chan, L.; Burnett, A.C.; Lee, K.J.; Connelly, A.; Anderson, P.J.; Doyle, L.W.; Cheong, J.L.Y.; Thompson, D.K.
2015Pharmacological management of low milk supply with domperidone: separating fact from fictionGrzeskowiak, L.E.; Amir, L.H.
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.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
2015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderKumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
2015Developmental disorders: deciphering exomes on a grand scaleGecz, J.; Corbett, M.
2015Gestational dietary protein is associated with sex specific decrease in blood flow, fetal heart growth and post-natal blood pressure of progenyHernandez-Medrano, J.; Copping, K.; Hoare, A.; Wapanaar, W.; Grivell, R.; Kuchel, T.; Miguel-Pacheco, G.; McMillen, I.; Rodgers, R.; Perry, V.; Crispi-Brillas, F.
2015Biological and social influences on outcomes of extreme-preterm/low-birth weight adolescentsDoyle, L.W.; Cheong, J.L.Y.; Burnett, A.; Roberts, G.; Lee, K.J.; Anderson, P.J.
2015Paediatric use of melatoninKennaway, D.J.

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