Research output per year
Research output per year
Personal profile
Specialisation
Pediatric Endocrinology
Research interests
Multi-omics of congenital hypothyroidism
Specialisation
Rare disorders
Specialisation
Protein modeling
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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An animal model for Pierpont syndrome; a mouse bearing the Tbl1xr1Y446C/Y446C mutation
Hu, Y., Lauffer, P., Stewart, M., Codner, G., Mayerl, S., Heuer, H., Ng, L., Forrest, D., Trotsenburg, P., Jongejan, A., Fliers, E., Hennekam, R. & Boelen, A., Apr 2022, In: Human Molecular Genetics.Research output: Contribution to Journal › Article › Academic › peer-review
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Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature
Lauffer, P., Boudin, E., van der Kaay, D. C. M., Koene, S., van Haeringen, A., van Tellingen, V., van Hul, W., Prickett, T. C. R., Mortier, G., Espiner, E. A. & van Duyvenvoorde, H. A., 1 Apr 2022, In: Journal of the Endocrine Society. 6, 4, bvac019.Research output: Contribution to Journal › Article › Academic › peer-review
Open Access -
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
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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., 1 Nov 2021, In: Thyroid. 31, 11, p. 1757-1762 6 p.Research output: Contribution to Journal › Article › Academic › peer-review
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Diagnosis and Management of Central Congenital Hypothyroidism
Lauffer, P., Zwaveling-Soonawala, N., Naafs, J. C., Boelen, A. & van Trotsenburg, A. S. P., 9 Sep 2021, In: Frontiers in Endocrinology. 12, 686317.Research output: Contribution to Journal › Review article › Academic › peer-review
Open Access