Autism and behavior in adult patients with Dravet syndrome (DS)
Berkvens, J.J.L, Veugen, I, Veendrick-Meekes, M.J.B.M, Snoeijen-Schouwenaars, F.M, Schelhaas, H.J, Willemsen, M.H, Tan, I.Y, Aldenkamp, A.P
Published in Epilepsy & behavior (01.06.2015)
Published in Epilepsy & behavior (01.06.2015)
Get full text
Journal Article
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum
Jansen, S., Kleefstra, T., Willemsen, M.H., de Vries, P., Pfundt, R., Hehir-Kwa, J.Y., Gilissen, C., Veltman, J.A., de Vries, B.B.A., Vissers, L.E.L.M.
Published in Clinical genetics (01.11.2016)
Published in Clinical genetics (01.11.2016)
Get full text
Journal Article
Update on Kleefstra Syndrome
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.
Published in Molecular syndromology (01.04.2012)
Published in Molecular syndromology (01.04.2012)
Get full text
Journal Article
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
Get full text
Journal Article
Adult Phenotypes in Angelman- and Rett-Like Syndromes
Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.
Published in Molecular syndromology (01.04.2012)
Published in Molecular syndromology (01.04.2012)
Get full text
Journal Article
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications
Wincent, J., Bruno, D.L., van Bon, B.W.M., Bremer, A., Stewart, H., Bongers, E.M.H.F., Ockeloen, C.W., Willemsen, M.H., Keays, D.A.D., Baird, G., Newbury, D.F., Kleefstra, T., Marcelis, C., Kini, U., Stark, Z., Savarirayan, R., Sheffield, L.J., Zuffardi, O., Slater, H.R., de Vries, B.B., Knight, S.J.L., Anderlid, B.-M., Schoumans, J.
Published in Molecular syndromology (01.01.2010)
Published in Molecular syndromology (01.01.2010)
Get full text
Journal Article