Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

W.M. Nillesen; H.G. Yntema; M. Moscarda; N.E. Verbeek; L.C. Wilson; F. Cowan; M. Schepens; A. Raas-Rothschild; O. Gafni-Weinstein; M. Zollino; R. Vijzelaar; G. Neri; M.R. Nelen; H. van Bokhoven; J.C. Giltay; T Kleefstra

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

Translated title of the contribution: Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

W.M. Nillesen, H.G. Yntema, M. Moscarda, N.E. Verbeek, L.C. Wilson, F. Cowan, M. Schepens, A. Raas-Rothschild, O. Gafni-Weinstein, M. Zollino, R. Vijzelaar, G. Neri, M.R. Nelen, H. van Bokhoven, J.C. Giltay, T Kleefstra

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome
Original language	Undefined/Unknown
Pages (from-to)	853-859
Number of pages	7
Journal	Human Mutation
Volume	32
Issue number	7
Publication status	Published - 2011

Cite this

Nillesen, W. M., Yntema, H. G., Moscarda, M., Verbeek, N. E., Wilson, L. C., Cowan, F., Schepens, M., Raas-Rothschild, A., Gafni-Weinstein, O., Zollino, M., Vijzelaar, R., Neri, G., Nelen, M. R., van Bokhoven, H., Giltay, J. C., & Kleefstra, T. (2011). Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Human Mutation, 32(7), 853-859.

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title = "Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome",

author = "W.M. Nillesen and H.G. Yntema and M. Moscarda and N.E. Verbeek and L.C. Wilson and F. Cowan and M. Schepens and A. Raas-Rothschild and O. Gafni-Weinstein and M. Zollino and R. Vijzelaar and G. Neri and M.R. Nelen and {van Bokhoven}, H. and J.C. Giltay and T Kleefstra",

year = "2011",

language = "Undefined/Unknown",

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journal = "Human Mutation",

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Nillesen, WM, Yntema, HG, Moscarda, M, Verbeek, NE, Wilson, LC, Cowan, F, Schepens, M, Raas-Rothschild, A, Gafni-Weinstein, O, Zollino, M, Vijzelaar, R, Neri, G, Nelen, MR, van Bokhoven, H, Giltay, JC & Kleefstra, T 2011, 'Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome', Human Mutation, vol. 32, no. 7, pp. 853-859.

TY - JOUR

T1 - Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

AU - Nillesen, W.M.

AU - Yntema, H.G.

AU - Moscarda, M.

AU - Verbeek, N.E.

AU - Wilson, L.C.

AU - Cowan, F.

AU - Schepens, M.

AU - Raas-Rothschild, A.

AU - Gafni-Weinstein, O.

AU - Zollino, M.

AU - Vijzelaar, R.

AU - Neri, G.

AU - Nelen, M.R.

AU - van Bokhoven, H.

AU - Giltay, J.C.

AU - Kleefstra, T

PY - 2011

Y1 - 2011

M3 - Article

SN - 1059-7794

VL - 32

SP - 853

EP - 859

JO - Human Mutation

JF - Human Mutation

IS - 7

ER -