Update on Kleefstra Syndrome by Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.

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Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort by Cohn-Hokke, P. E., Wong, T. H., Rizzu, P., Breedveld, G., van der Flier, W. M., Scheltens, P., Baas, F., Heutink, P., Meijers-Heijboer, E. J., van Swieten, J. C., Pijnenburg, Y. A. L.

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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions by SIMON-SANCHEZ, Javier, DOPPER, Elise G. P, SMITS, Marion, RAAPHORST, Joost, DEN BERG, Leonard H. Van, SCHELHAAS, Helenius J, DE DIE-SMULDERS, Christine E. M, MAJOOR-KRAKAUER, Danielle, ROZEMULLER, Annemieke J. M, WILLEMSEN, Rob, PIJNENBURG, Yolande A. L, HEUTINK, Peter, COHN-HOKKE, Petra E, SWIETEN, John C. Van, HUKEMA, Renate K, NICOLAOU, Nayia, SEELAAR, Harro, DE GRAAF, J. Roos A, DE KONING, Inge, SCHOOR, Natasja M. Van, DEEG, Dorly J. H

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Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds by Wentink, M, Nellist, M, Hoogeveen-Westerveld, M, Zonnenberg, B, van der Kolk, D, van Essen, T, Park, S-M, Woods, G, Cohn-Hokke, P, Brussel, W, Smeets, E, Brooks, A, Halley, D, van den Ouweland, A, Maat-Kievit, A

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