Clinical Genetics, 0009-9163

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Related Publications
  1. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

    ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J. & Ginjaar, I., Aug-2019, In : Clinical Genetics. 96, 2, p. 126-133 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

    Zollino, M., Zweier, C., Van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., De Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F., Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., Van Balkom, H., Whalen, S. & Hennekam, R. C., Apr-2019, In : Clinical Genetics. 95, 4, p. 462-478 17 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. Human syndromes with congenital patellar anomalies and the underlying gene defects

    Bongers, E. M. H. F., van Kampen, A., van Bokhoven, H. & Knoers, N. V. A. M., 2005, In : Clinical Genetics. 68, 4, p. 302-19 18 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  4. Clinical implications of the oncometabolite succinate in SDHx-mutation carriers

    Eijkelenkamp, K., Osinga, T. E., Links, T. P. & van der Horst-Schrivers, A. N. A., 2020, In : Clinical Genetics. 97, 1, p. 39-53 15 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Molecular and clinical studies in 8 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., Jun-2018, In : Clinical Genetics. 93, 6, p. 1179-1188 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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