An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia
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
Published in Molecular psychiatry (01.11.2008)
Published in Molecular psychiatry (01.11.2008)
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Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing
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
Published in Scientific reports (12.05.2017)
Published in Scientific reports (12.05.2017)
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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands
Yuen, W.Y., Lemmink, H.H., van Dijk-Bos, K.K., Sinke, R.J., Jonkman, M.F.
Published in British journal of dermatology (1951) (01.12.2011)
Published in British journal of dermatology (1951) (01.12.2011)
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A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q
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.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis
van de Warrenburg, B P C, Sinke, R J, Verschuuren-Bemelmans, C C, Scheffer, H, Brunt, E R, Ippel, P F, Maat-Kievit, J A, Dooijes, D, Notermans, N C, Lindhout, D, Knoers, N V A M, Kremer, H P H
Published in Neurology (12.03.2002)
Published in Neurology (12.03.2002)
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Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1
Yuen, W.Y., Pas, H.H., Sinke, R.J., Jonkman, M.F.
Published in British journal of dermatology (1951) (01.06.2011)
Published in British journal of dermatology (1951) (01.06.2011)
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Association between an agouti-related protein gene polymorphism and anorexia nervosa
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
Published in Molecular psychiatry (01.05.2001)
Published in Molecular psychiatry (01.05.2001)
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Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases
Stemkens, D, Roza, T, Verrij, L, Swaab, H, Van Werkhoven, MK, Alizadeh, BZ, Sinke, RJ, Giltay, JC
Published in Clinical genetics (01.07.2006)
Published in Clinical genetics (01.07.2006)
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Natural fibre reinforced sheet moulding compound
van Voorn, B, Smit, H.H.G, Sinke, R.J, de Klerk, B
Published in Composites. Part A, Applied science and manufacturing (01.01.2001)
Published in Composites. Part A, Applied science and manufacturing (01.01.2001)
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Conference Proceeding
An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency
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
Published in The journal of clinical endocrinology and metabolism (01.03.2007)
Published in The journal of clinical endocrinology and metabolism (01.03.2007)
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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
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.
Published in Prenatal diagnosis (01.11.2005)
Published in Prenatal diagnosis (01.11.2005)
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Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation
Berger, G, van den Berg, E, Sikkema-Raddatz, B, Abbott, K M, Sinke, R J, Bungener, L B, Mulder, A B, Vellenga, E
Published in Leukemia (01.02.2017)
Published in Leukemia (01.02.2017)
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Neuregulin 1: genetic support for schizophrenia subtypes
Bakker, S C, Hoogendoorn, M L C, Selten, J-P, Verduijn, W, Pearson, P L, Sinke, R J, Kahn, R S
Published in Molecular psychiatry (01.12.2004)
Published in Molecular psychiatry (01.12.2004)
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Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13
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
Published in Molecular psychiatry (01.01.2006)
Published in Molecular psychiatry (01.01.2006)
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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing
Baardman, R, Lemmink, H H, Yenamandra, V K, Commandeur-Jan, S Z, Viel, M, Kooi, K A, Diercks, G F H, Meijer, R, van Geel, M, Scheffer, H, Sinke, R J, Sikkema-Raddatz, B, Bolling, M C, van den Akker, P C
Published in Journal of the European Academy of Dermatology and Venereology (11.03.2024)
Published in Journal of the European Academy of Dermatology and Venereology (11.03.2024)
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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24
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.
Published in British journal of dermatology (1951) (01.11.2018)
Published in British journal of dermatology (1951) (01.11.2018)
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