An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia von Jungerius, B J, Hoogendoorn, M L C, Bakker, S C, van't Slot, R, Bardoel, A F, Ophoff, R A, Wijmenga, C, Kahn, R S, Sinke, R J

Volltext

A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q von Bakker, S.C., Meulen, E. M. van der, Buitelaar, J.K., Sandkuijl, L.A., Pauls, D.L., Monsuur, A.J., Slot, R. van ‘t, Minderaa, R.B., Gunning, W.B., Pearson, P.L., Sinke, R.J.

Volltext

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands von Yuen, W.Y., Lemmink, H.H., van Dijk-Bos, K.K., Sinke, R.J., Jonkman, M.F.

Volltext

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing von Johansson, L. F., de Boer, E. N., de Weerd, H. A., van Dijk, F., Elferink, M. G., Schuring-Blom, G. H., Suijkerbuijk, R. F., Sinke, R. J., te Meerman, G. J., Sijmons, R. H., Swertz, M. A., Sikkema-Raddatz, B.

Volltext

Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis von VAN DE WARRENBURG, B. P. C, SINKE, R. J, KNOERS, N. V. A. M, KREMER, H. P. H, VERSCHUUREN-BEMELMANS, C. C, SCHEFFER, H, BRUNT, E. R, IPPEL, P. F, MAAT-KIEVIT, J. A, DOOIJES, D, NOTERMANS, N. C, LINDHOUT, D

Volltext

ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations von Yuen, W.Y., Sinke, R.J., Jonkman, M.F.

Volltext

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family von VAN DE WARRENBURG, B. P. C, VERBEEK, D. S, PIERSMA, S. J, HENNEKAM, F. A. M, PEARSON, P. L, KNOERS, N. V. A. M, KREMER, H. P. H, SINKE, R. J

Volltext

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1 von Yuen, W.Y., Pas, H.H., Sinke, R.J., Jonkman, M.F.

Volltext

Association between an agouti-related protein gene polymorphism and anorexia nervosa von VINK, T, HINNEY, A, ADAN, R. A. H, VAN ELBURG, A. A, VAN GOOZEN, S. H. M, SANDKUIJL, L. A, SINKE, R. J, HERPERTZ-DAHLMANN, B-M, HEBEBRAND, J, REMSCHMIDT, H, VAN ENGELAND, H

Volltext

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation von Berger, G, van den Berg, E, Sikkema-Raddatz, B, Abbott, K M, Sinke, R J, Bungener, L B, Mulder, A B, Vellenga, E

Volltext

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3 von Verbeek, D. S., van de Warrenburg, B. P., Wesseling, P., Pearson, P. L., Kremer, H. P., Sinke, R. J.

Volltext

Natural fibre reinforced sheet moulding compound von van Voorn, B, Smit, H.H.G, Sinke, R.J, de Klerk, B

Volltext

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases von Stemkens, D, Roza, T, Verrij, L, Swaab, H, Van Werkhoven, MK, Alizadeh, BZ, Sinke, RJ, Giltay, JC

Volltext

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA) von Hochstenbach, R., Meijer, J., van de Brug, J., Vossebeld-Hoff, I., Jansen, R., van der Luijt, R. B., Sinke, R. J., Page-Christiaens, G. C. M. L., Ploos van Amstel, J.-K., de Pater, J. M.

Volltext

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing von Baardman, R., Lemmink, H. H., Yenamandra, V. K., Commandeur‐Jan, S. Z., Viel, M., Kooi, K. A., Diercks, G. F. H., Meijer, R., Geel, M., Scheffer, H., Sinke, R. J., Sikkema‐Raddatz, B., Bolling, M. C., Akker, P. C.

Volltext

An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency von Verrijn Stuart, A. A., Ozisik, G., de Vroede, M. A., Giltay, J. C., Sinke, R. J., Peterson, T. J., Harris, R. M., Weiss, J., Jameson, J. L.

Volltext

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24 von Yenamandra, V.K., Akker, P.C., Lemmink, H.H., Jan, S.Z., Diercks, G.F.H., Vermeer, M., Berg, M.P., Meer, P., Pasmooij, A.M.G., Sinke, R.J., Jonkman, M.F., Bolling, M.C.

Volltext

Neuregulin 1: genetic support for schizophrenia subtypes von Bakker, S C, Hoogendoorn, M L C, Selten, J-P, Verduijn, W, Pearson, P L, Sinke, R J, Kahn, R S

Volltext

Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13 von Ogdie, M N, Bakker, S C, Fisher, S E, Francks, C, Yang, M H, Cantor, R M, Loo, S K, van der Meulen, E, Pearson, P, Buitelaar, J, Monaco, A, Nelson, S F, Sinke, R J, Smalley, S L

Volltext

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype von van de Warrenburg, B P, Frenken, C W, Ausems, M G, Kleefstra, T, Sinke, R J, Knoers, N V, Kremer, H P

Volltext