1. 2021
  2. Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020.00499)

    Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., van Lenthe, H., Metgod, I., Mooij, C. F., van der Sluijs, E. H. C., van Trotsenburg, A. S. P., Verschoof-Puite, R. K., Vaz, F. M. & 5 others, Waterham, H. R., Wijburg, F. A., Engelen, M., Dekkers, E. & Kemp, S., 28 Jan 2021, In: Frontiers in cell and developmental biology. 9, 631655.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  3. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

    Genomics England Research Consortium, Lin, Y. C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A. T., Maroofian, R., Beetz, C., van Duyvenvoorde, H., Dentici, M. L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Grüning, N. M., Bellacchio, E., Del Fattore, A., Petrini, S., Shaheen, R. & 27 others, Tiosano, D., Halloun, R., Pode-Shakked, B., Albayrak, H. M., Işık, E., Wit, J. M., Dittrich, M., Freire, B. L., Bertola, D. R., Jorge, A. A. L., Barel, O., Sabir, A. H., Al Tenaiji, A. M. J., Taji, S. M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M. C., Irving, M., Anikster, Y., Bhavani, G. S. L., Girisha, K. M., Haaf, T., Taylor, J. C., Dallapiccola, B., Alkuraya, F. S., Yang, R. B. & Tartaglia, M., 7 Jan 2021, In: American journal of human genetics. 108, 1, p. 115-133 19 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Congenital isolated central hypothyroidism: Novel mutations and their functional implications

    Boelen, A., van Trotsenburg, A. S. P. & Fliers, E., 1 Jan 2021, Handbook of Clinical Neurology. 3rd Series ed. Elsevier B.V., Vol. 180. p. 161-169 9 p. (Handbook of Clinical Neurology; vol. 180).

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

  5. Persisting symptoms in patients with Hashimoto's disease despite normal thyroid hormone levels: Does thyroid autoimmunity play a role? A systematic review

    Groenewegen, K. L., Mooij, C. F. & van Trotsenburg, A. S. P., 1 Jan 2021, In: Journal of Translational Autoimmunity. 4, 100101.

    Research output: Contribution to journalReview articleAcademicpeer-review

  6. Reply to letter to the Editor

    Dreuning, K. M. A., van Trotsenburg, A. S. P., van Heurn, L. W. E. & Derikx, J. P. M., Jan 2021, In: Journal of pediatric surgery. 56, 1, p. 204 1 p.

    Research output: Contribution to journalComment/Letter to the editorAcademic

  7. Pediatric Graves’ orbitopathy: a multicentre study

    Ionescu, I. C., van Trotsenburg, P. A. S., Paridaens, D., Tanck, M., Mooij, C. F., Cagienard, E., Kalmann, R., Pakdel, F., van der Meeren, S. & Saeed, P., 2021, (E-pub ahead of print) In: Acta ophthalmologica.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. 2020
  9. Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening

    Naafs, J. C., Verkerk, P. H., Fliers, E., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Dec 2020, In: European journal of endocrinology / European Federation of Endocrine Societies. 183, 6, p. 627-636 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. New national recommendations for the treatment of pediatric differentiated thyroid carcinoma in the Netherlands

    Lebbink, C. A., Dekker, B. L., Bocca, G., Braat, A. J. A. T., Derikx, J. P. M., Dierselhuis, M. P., de Keizer, B., Kruijff, S., Kwast, A. B. G., van Nederveen, F. H., Nieveen van Dijkum, E. J. M., Nievelstein, R. A. J., Peeters, R. P., Terwisscha van Scheltinga, C. E. J., Tissing, W. J. E., van der Tuin, K., Vriens, M. R., Zsiros, J., van Trotsenburg, A. S. P., Links, T. P. & 1 others, van Santen, H. M., 1 Oct 2020, In: European journal of endocrinology / European Federation of Endocrine Societies. 183, 4, p. P11-P18

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands

    Stroek, K., Heijboer, A. C., Bouva, M. J., van der Ploeg, C. P. B., Heijnen, M-L. A., Weijman, G., Bosch, A. M., de Jonge, R., Schielen, P. C. J. I., van Trotsenburg, A. S. P. & Boelen, A., 1 Sep 2020, In: European journal of endocrinology / European Federation of Endocrine Societies. 183, 3, p. 265-273 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

Previous 1 2 3 4 5 6 7 8 ...21 Next

ID: 20013