Clinical Genetics, 0009-9163

Journal

View graph of relations

Related Publications
  1. 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.

    Research output: Scientific - peer-reviewArticle

  2. 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: Scientific - peer-reviewArticle

  3. 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.

    Research output: Scientific - peer-reviewArticle

  4. The fragile X-chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981-1986

    Veenema, H., Beverstock, G. C., de Koning, T., Pearson, P. L. & van de Kamp, J. J. P. Jun-1988 In : Clinical Genetics. 33, 6, p. 410-417 8 p.

    Research output: Scientific - peer-reviewArticle

  5. Performance of BRCA1/2 mutation prediction models in male breast cancer patients

    Moghadasi, S., Grundeken, V., Janssen, L. A. M., Dijkstra, N. H., Rodriguez-Girondo, M., van Zelst-Stams, W. A. G., Oosterwijk, J. C., Ausems, M. G. E. M., Oldenburg, R. A., Adank, M. A., Blom, E. W., Ruijs, M. W. G., van Os, T. A. M., van Deurzen, C. H. M., Martens, J. W. M., Schroder, C. P., Wijnen, J. T., Vreeswijk, M. P. G. & van Asperen, C. J. Jan-2018 In : Clinical Genetics. 93, 1, p. 52-59 8 p.

    Research output: Scientific - peer-reviewArticle

View all (61) »

ID: 2430817