1. 2017
  2. Variants in KAT6A and pituitary anomalies

    Zwaveling-Soonawala, N., Maas, S. M., Alders, M., Majoie, C. B., Fliers, E., van Trotsenburg, A. S. P. & Hennekam, R. C. M., 2017, In: American journal of medical genetics. Part A. 173, 9, p. 2562-2565

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 2016
  4. A Child with Local Lipohypertrophy following Recombinant Human Growth Hormone Administration

    Koppen, I. J. N., Bakx, R., de Kruiff, C. C. & van Trotsenburg, A. S. P., 2016, In: Case reports in pediatrics. 2016, p. 9648043

    Research output: Contribution to journalArticleAcademicpeer-review

  5. A specific mutation in TBL1XR1 causes Pierpont syndrome

    Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., Pierpont, M. E., Schaefer, G. B., Stewart, F., van Trotsenburg, A. S. P., Fliers, E., Schwabe, J. W. R. & Hennekam, R. C., 2016, In: Journal of medical genetics. 53, 5, p. 330-337

    Research output: Contribution to journalArticleAcademicpeer-review

  6. Growing up with Down syndrome: Development from 6 months to 10.7 years

    Marchal, J. P., Maurice-Stam, H., Houtzager, B. A., Rutgers van Rozenburg-Marres, S. L., Oostrom, K. J., Grootenhuis, M. A. & van Trotsenburg, A. S. P., 2016, In: Research in developmental disabilities. 59, p. 437-450

    Research output: Contribution to journalArticleAcademicpeer-review

  7. IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

    Joustra, S. D., Heinen, C. A., Schoenmakers, N., Bonomi, M., Ballieux, B. E. P. B., Turgeon, M-O., Bernard, D. J., Fliers, E., van Trotsenburg, A. S. P., Losekoot, M., Persani, L., Wit, J. M., Biermasz, N. R., Pereira, A. M. & Oostdijk, W., 2016, In: Journal of clinical endocrinology and metabolism. 101, 4, p. 1627-1636

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome

    Joustra, S. D., Andela, C. D., Oostdijk, W., van Trotsenburg, A. S. P., Fliers, E., Wit, J. M., Pereira, A. M., Middelkoop, H. A. M. & Biermasz, N. R., 2016, In: Clinical endocrinology. 84, 6, p. 896-903

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning

    Marchal, J. P., Maurice-Stam, H., van Trotsenburg, A. S. P. & Grootenhuis, M. A., 2016, In: Research in developmental disabilities. 59, p. 359-369

    Research output: Contribution to journalArticleAcademicpeer-review

  10. Mutations in TBL1X Are Associated With Central Hypothyroidism

    Heinen, C. A., Losekoot, M., Sun, Y., Watson, P. J., Fairall, L., Joustra, S. D., Zwaveling-Soonawala, N., Oostdijk, W., van den Akker, E. L. T., Alders, M., Santen, G. W. E., van Rijn, R. R., Dreschler, W. A., Surovtseva, O. V., Biermasz, N. R., Hennekam, R. C., Wit, J. M., Schwabe, J. W. R., Boelen, A., Fliers, E., & 1 othersvan Trotsenburg, A. S. P., 2016, In: Journal of clinical endocrinology and metabolism. 101, 12, p. 4564-4573

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome

    Joustra, S. D., Roelfsema, F., Endert, E., Ballieux, B. E. P. B., van Trotsenburg, A. S. P., Fliers, E., Corssmit, E. P. M., Bernard, D. J., Oostdijk, W., Wit, J. M., Pereira, A. M. & Biermasz, N. R., 2016, In: Neuroendocrinology. 103, 3-4, p. 408-416

    Research output: Contribution to journalArticleAcademicpeer-review

  12. Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

    van Tellingen, V., Finken, M. J. J., Israëls, J., Hendriks, Y. M. C., Kamp, G. A. & van Santen, H. M., 2016, In: Hormone research in paediatrics. 86, 6, p. 420-424 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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