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  1. 2023

  2. Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism

    Stroek, K., Visser, A., van der Ploeg, C. P. B., Zwaveling-Soonawala, N., Heijboer, A. C., Bosch, A. M., van Trotsenburg, A. S. P., Boelen, A., Hoogendoorn, M. & de Jonge, R., 1 Jun 2023, In: Clinical biochemistry. 116, p. 7-10 4 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Further delineation of central congenital hypothyroidism due to variants in TBL1X and IRS4

    Lauffer, P., Naafs, J. C., Bikker, H., Garrelfs, M. R., Mooij, C. F., Boelen, A., Zwaveling-Soonawala, N. & van Trotsenburg, A. S., 1 Mar 2023, (E-pub ahead of print) In: Thyroid.

    Research output: Contribution to journal › Article › Academic › peer-review

  4. Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome

    Lauffer, P., Zwaveling-Soonawala, N., Li, S., Bacalini, M. G., Naumova, O. Y., Wiemels, J., Boelen, A., Henneman, P., de Smith, A. J. & van Trotsenburg, A. S. P., 1 Jan 2023, In: Thyroid. 33, 1, p. 53-62 10 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  5. 2022

  6. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

    Juriaans, A. F., Kerkhof, G. F., Mahabier, E. F., Sas, T. C. J., Zwaveling-Soonawala, N., Touwslager, R. N. H., Rotteveel, J. & Hokken-Koelega, A. C. S., 1 Nov 2022, In: Journal of clinical medicine. 11, 21, 6289.

    Research output: Contribution to journal › Article › Academic › peer-review

  7. The Effect of Pre-Thyroidectomy Calcitriol Prophylaxis on Post-Thyroidectomy Hypocalcaemia in Children

    Vendrig, L. M., Mooij, C. F., Derikx, J. P. M., Fischer, J. C., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Nov 2022, In: Hormone research in paediatrics. 95, 5, p. 423-429 7 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  8. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

    Garrelfs, M. R., Rinne, T., Hillebrand, J. J., Lauffer, P., Bijlsma, M. W., Claahsen-van der Grinten, H. L., de Leeuw, N., Finken, M. J. J., Rotteveel, J., Zwaveling-Soonawala, N., Nieuwdorp, M., van Trotsenburg, A. S. P. & Mooij, C. F., 18 Jul 2022, (E-pub ahead of print) In: Journal of clinical research in pediatric endocrinology.

    Research output: Contribution to journal › Article › Academic › peer-review

  9. Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report

    Lauffer, P., Bikker, H., Boelen, A., Jöbsis, J. J., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Apr 2022, In: Thyroid. 32, 4, p. 472-474 3 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  10. 2021

  11. Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

    Mooij, C. F., Tacke, C. E., van Albada, M. E., Barthlen, W., Bikker, H., Mohnike, K., Oomen, M. W. N., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., Dec 2021, In: Annals of pediatric endocrinology & metabolism. 26, 4, p. 278-283 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

    Stroek, K., Ruiter, A., van der Linde, A., Ackermans, M., Bouva, M. J., Engel, H., Jakobs, B., Kemper, E. A., van den Akker, E. L. T., van Albada, M. E., Bocca, G., Finken, M. J. J., Hannema, S. E., Mieke Houdijk, E. C. A., van der Kamp, H. J., van Tellingen, V., Paul van Trotsenburg, A. S., Zwaveling-Soonawala, N., Bosch, A. M., de Jonge, R., & 3 othersHeijboer, A. C., Claahsen-van der Grinten, H. L. & Boelen, A., 1 Nov 2021, In: Journal of clinical endocrinology and metabolism. 106, 11, p. E4487-E4496

    Research output: Contribution to journal › Article › Academic › peer-review

  13. Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

    Lauffer, P., Bikker, H., Garrelfs, M. R., Hillebrand, J. J. G., de Sonnaville, M-L. C. S., Zwaveling-Soonawala, N. & van Trotsenburg, A. S. P., Nov 2021, In: Thyroid. 31, 11, p. 1757-1762 6 p.

    Research output: Contribution to journal › Article › Academic › peer-review

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