CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy von Friedman, J I, Vrijenhoek, T, Markx, S, Janssen, I M, van der Vliet, W A, Faas, B H W, Knoers, N V, Cahn, W, Kahn, R S, Edelmann, L, Davis, K L, Silverman, J M, Brunner, H G, van Kessel, A Geurts, Wijmenga, C, Ophoff, R A, Veltman, J A

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SP001TARGETED SEQUENCING OF 399 RENAL GENES RECLASSIFIES PRIMARY DISEASE DIAGNOSES IN YOUNG ESRD PATIENTS von van Eerde, Albertien M., van der Zwaag, A., de Borst, M. H., Peters, E. J., Renkema, K. Y., Elferink, M., van Zon, P. H.A., Lilien, M. R., van Haaften, G. W., Giles, R. H., Navis, G. J., Knoers, N.V. A.M.

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability von Monroe, G.R, Frederix, G.W.J, Savelberg, S.M, de Vries, T.I, Duran, K.J, van der Smagt, J.J, Terhal, P.A, van Hasselt, P.M, Kroes, H.Y, Verhoeven - Duif, N.M, Nijman, I.J, Carbo, E.C, van Gassen, K.L.I, Knoers, N.V, Hövels, A.M, van Haelst, M.M, Visser, G, Van Haaften, G

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Decreased bone density and treatment in patients with autosomal recessive cutis laxa von Noordam, C, Funke, S, Knoers, N.V, Jira, P, Wevers, R.A, Urban, Z, Morava, Eva

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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases von Lochmuller, H., Badowska, D.M., Thompson, R., Knoers, N.V., Aartsma-Rus, A., Gut, I., Wood, L., Harmuth, T., Durudas, A., Graessner, H., Schaefer, F., Riess, O.

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Focus op het onderliggend mechanisme. Lithium-geïnduceerde nefrogene diabetes insipidus von Wilting, I, Baumgarten, R, Movig, K.L.L, Laarhoven, J, Apperloo, A.J, Nolen, W.A, Heerdink, E.R, Knoers, N.V, Egberts, A.C.G

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Male patients affected by mosaic PCDH19 mutations: five new cases von Lange, I.M. de, Rump, P., Neuteboom, R.F., Augustijn, P.B., Hodges, K., Kistemaker, A.I., Brouwer, O.F., Mancini, G.M.S., Newman, H.A., Vos, Y.J., Helbig, K.L., Peeters-Scholte, C., Kriek, M., Knoers, N.V., Lindhout, D., Koeleman, B.P.C., Kempen, M.J.A. van, Brilstra, E.H.

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy von Friedman, J.I, Vrijenhoek, T, Markx, S, Janssen, I.M, van der Vliet, W.A, Faas, B.H.W, Knoers, N.V, Cahn, W, Kahn, R.S, Edelmann, L, Davis, K.L, Silverman, J.M, Brunner, H.G, van Kessel, A. Geurts, Wijmenga, C, Ophoff, R.A, Veltman, J.A

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