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Results 11-20 of 23 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2015Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signalingSnijders Blok, L.; Madsen, E.; Juusola, J.; Gilissen, C.; Baralle, D.; Reijnders, M.; Venselaar, H.; Helsmoortel, C.; Cho, M.; Hoischen, A.; Vissers, L.; Koemans, T.; Wissink-Lindhout, W.; Eichler, E.; Romano, C.; Van Esch, H.; Stumpel, C.; Vreeburg, M.; Smeets, E.; Oberndorff, K.; et al.
2015A systematic review of transfusion-associated graft-versus-host diseaseKopolovic, I.; Ostro, J.; Tsubota, H.; Lin, Y.; Cserti-Gazdewich, C.; Messner, H.; Keir, A.; DenHollander, N.; Dzik, W.; Callum, J.
2015Temporal changes in blood product usage in preterm neonates born at less than 30 weeks' gestation in CanadaKeir, A.; Yang, J.; Harrison, A.; Pelausa, E.; Shah, P.
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.
2015Redox and anti-oxidant state within cattle oocytes following in vitro maturation with bone morphogenetic protein 15 and follicle stimulating hormoneSutton-McDowall, M.; Purdey, M.; Brown, H.; Abell, A.; Mottershead, D.; Cetica, P.; Dalvit, G.; Goldys, E.; Gilchrist, R.; Gardner, D.; Thompson, J.
2015Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalHaines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
2015Developmental disorders: deciphering exomes on a grand scaleGecz, J.; Corbett, M.
2015Use of domperidone to increase breast milk supply: further consideration of the benefit-risk ratio is requiredGrzeskowiak, L.E.; Amir, L.H.