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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

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

  3. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

    Lauffer, P., Pals, G., Zwinderman, A. H., Postema, F. A. M., Baars, M. J. H., Dulfer, E., Hilhorst-Hofstee, Y., Houweling, A. C., Kempers, M., Krapels, I. P. C., van de Laar, I. M. B. H., Loeys, B., Spaans, A. M. J., Warnink-Kavelaars, J., de Waard, V., Wit, J. M. & Menke, L. A., Feb 2023, In: American journal of medical genetics. Part A. 191, 2, p. 479-489 11 p.

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

  4. Just as Tall on Testosterone; a Neutral to Positive Effect on Adult Height of GnRHa and Testosterone in Trans Boys

    Willemsen, L. A., Boogers, L. S., Wiepjes, C. M., Klink, D. T., van Trotsenburg, A. S. P., den Heijer, M. & Hannema, S. E., 17 Jan 2023, In: Journal of clinical endocrinology and metabolism. 108, 2, p. 414-421 8 p.

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

  5. 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

  6. Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion

    Vos, N., Menke, L. A., Mooij, C. F., van den Akker, E. L. T., Alders, M. & van Haelst, M. M., 2023, (E-pub ahead of print) In: American journal of medical genetics. Part A.

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  7. 2022

  8. 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

  9. 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

  10. Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome: International Journal of Molecular Sciences

    van der Laan, L., Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M. A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M. L., Vissers, L. E. L. M., Koene, S., Ruivenkamp, C., Hoffer, M. J. V., Wieczorek, D., Bramswig, N. C., Herget, T., González, V. L., & 15 othersSantos-Simarro, F., Tørring, P. M., Denomme-Pichon, A-S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P-Y., Misra-Isrie, M., Van Esch, H., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., Nov 2022

    Research output: Other contribution › Academic

  11. Transgender Girls Grow Tall: Adult Height Is Unaffected by GnRH Analogue and Estradiol Treatment

    Boogers, L. S., Wiepjes, C. M., Klink, D. T., Hellinga, I., van Trotsenburg, A. S. P., den Heijer, M. & Hannema, S. E., 1 Sep 2022, In: Journal of clinical endocrinology and metabolism. 107, 9, p. e3805-e3815

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

  12. 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., Sep 2022, In: Acta ophthalmologica. 100, 6, p. e1340-e1348

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

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