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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. P., 1 Jul 2023, In: Thyroid. 33, 7, p. 880-884 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Schaaf-yang syndrome: Clinical phenotype and effects of 4 years of growth hormone treatment
Juriaans, A. F., Kerkhof, G. F., Garrelfs, M., Trueba-Timmermans, D. & Hokken-Koelega, A. C. S., 21 Jun 2023, In: Hormone Research in Paediatrics. 97, 2, p. 148-156Research output: Contribution to journal › Article › Academic › peer-review
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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, In: Journal of clinical research in pediatric endocrinology.Research output: Contribution to journal › Article › Academic › peer-review
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