Clinical Genetics, 0009-9163

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  1. Molecular and clinical studies in eight patients with Temple syndrome

    Gillessen-Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij-Arts, C. M. A., Schulz, S., Strobl-Wildemann, G., Buiting, K. & Beygo, J. 22-Feb-2018 In : Clinical Genetics.

    Research output: Contribution to journalArticle

  2. 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. 2-Feb-2018 In : Clinical Genetics. 18 p.

    Research output: Contribution to journalArticle

  3. The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers

    Rijken, J. A., Niemeijer, N. D., Jonker, M. A., Eijkelenkamp, K., Jansen, J. C., van Berkel, A., Timmers, H. J. L. M., Kunst, H. P. M., Bisschop, P. H. L. T., Kerstens, M. N., Dreijerink, K. M. A., van Dooren, M. F., van der Horst-Schrivers, A. N. A., Hes, F. J., Leemans, C. R., Corssmit, E. P. M. & Hensen, E. F. Jan-2018 In : Clinical Genetics. 93, 1, p. 60-66 7 p.

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  4. Homozygous TMEM127-mutations in two patients with bilateral pheochromocytomas

    Eijkelenkamp, K., Olderode-Berends, M. J. W., van der Luijt, R. B., Robledo, M., van Dooren, M., Feelders, R. A., de Vries, J., Kerstens, M. N., Links, T. P. & van der Horst-Schrivers, A. N. A. 28-Dec-2017 In : Clinical Genetics. 27 p.

    Research output: Contribution to journalArticle

  5. De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

    Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S. & Shinde, D. N. 18-Dec-2017 (Accepted/In press) In : Clinical Genetics. 29 p.

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