PP05.5 – 3064: The role of exome sequencing in daily pediatric neurology practice von Schieving, J.H

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Alpha-fetoprotein, a fascinating protein and biomarker in neurology von Schieving, J.H, de Vries, M, van Vugt, J.M.G, Weemaes, C, van Deuren, M, Nicolai, J, Wevers, R.A, Willemsen, M.A

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The diagnostic pathway in complex paediatric neurology: A cost analysis von van Nimwegen, K.J.M, Schieving, J.H, Willemsen, M.A.A.P, Veltman, J.A, van der Burg, S, van der Wilt, G.J, Grutters, J.P.C

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Parental quality of life in complex paediatric neurologic disorders of unknown aetiology von van Nimwegen, K.J.M, Kievit, W, van der Wilt, G.J, Schieving, J.H, Willemsen, M.A.A.P, Donders, A.R.T, Verhaak, C.M, Grutters, J.P.C

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OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures von Kevelam, S.H, Taube, J.R, van Spaendonk, R.M.L, Bertini, E, Tarnopolsky, M, Tonduti, D, Bernard, G, Catsman-Berrevoets, C.E, van Karnebeek, C.D.M, Østergaard, J.R, Friederich, R.L, Fawzi, M, Schieving, J.H, Orcesi, S, Steenweg, M.E, Waisfisz, Q, Abbink, T.E.M, van der Knaap, M.S, Hobson, G.M, Wolf, N.I

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Telangiectasias: Small lesions referring to serious disorders von Schieving, J.H., Schoenaker, M.H.D., Weemaes, C.M., van Deuren, M., van der Flier, M., Seyger, M.M., Willemsen, M.A.A.P.

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von Pennings, M., Schouten, M.I., Gaalen, J. van, Meijer, R.P.P., Bot, S.T. de, Kriek, M., Saris, C.G.J., Berg, L.H. van den, Es, M.A. van, Zuidgeest, D.M.H., Elting, M.W., Kamp, J.M. van de, Spaendonck-Zwarts, K.Y. van, Die-Smulders, C. de, Brilstra, E.H., Verschuuren, C.C., Vries, B.B.A. de, Bruijn, J., Sofou, K., Duijkers, F.A., Jaeger, B., Schieving, J.H., Warrenburg, B.P. van de, Kamsteeg, E.J.

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