Search Results - "Smit, L.S."

DMO04 Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance by Barth, P.G, Majoie, C.B, Caan, M.W.A, Weterman, M.A.J, Kyllerman, M, Smit, L.S, Kaplan, R.A, Haas, R.H, Baas, F, Cobben, J.-M, Poll-The, B.T

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A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5′-phosphate by Stolwijk, N.N., Brands, M.M., Smit, L.S., van der Wel, V., Hollak, C.E.M., van Karnebeek, C.D.

“…A rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5′-phosphate…”
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Cover Image, Volume 37, Issue 12 by de Wit, M.C., Boekhorst, F., Mancini, G.M., Smit, L.S., Groenenberg, I.A.L., Dudink, J., de Vries, F.A.T., Go, A.T.J.I., Galjaard, R.J.H.

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Perinatal risk factors for visuospatial attention and processing dysfunctions at 1 year of age in children born between 26 and 32 weeks by Kooiker, M.J.G., Swarte, R.M.C., Smit, L.S., Reiss, I.K.M.

“…Children born preterm are at risk of visuospatial attention orienting and processing dysfunctions, which can be quantified early in life using visually-guided…”
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Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound by Wit, M.C., Boekhorst, F., Mancini, G.M., Smit, L.S., Groenenberg, I.A.L., Dudink, J., Vries, F.A.T., Go, A.T.J.I., Galjaard, R.J.H.

“…Objective Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Microarray and exome sequencing (ES) might aid in prenatal…”
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