Heinen, Charlotte A.

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., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 92

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., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Immunodeficiency and Autoimmune DisordersThyroid Disorders and Treatments

Cited by 91

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., et al. (2016) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 73

Mutations in IRS4 are associated with central hypothyroidism

Heinen, C. A., de Vries, E. M., Alders, M., Bikker, H., Zwaveling-Soonawala, N., van den Akker, E. L. T., Bakker, B., Hoorweg-Nijman, G., Roelfsema, F., Hennekam, R. C., et al. (2018) · Journal of Medical Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 38

Age-Specific Reference Intervals for Plasma Free Thyroxine and Thyrotropin in Term Neonates During the First Two Weeks of Life

Naafs, J. C., Heinen, C. A., Zwaveling-Soonawala, N., van der Schoor, S. R. D., van Tellingen, V., Heijboer, A. C., Fliers, E., Boelen, A., & van Trotsenburg, A. S. P. (2020) · Thyroid®

Thyroid Disorders and TreatmentsClinical Laboratory Practices and Quality Control

Cited by 21