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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 DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: van tellingen v. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency.
Schröder MAM, van Herwaarden AE, Span PN, van den Akker ELT, Bocca G, Hannema SE, van der Kamp HJ, de Kort SWK, Mooij CF, Schott DA, Straetemans S, van Tellingen V, van der Velden JA, Sweep FCGJ, Claahsen-van der Grinten HL. Schröder MAM, et al. Among authors: van tellingen v. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1661-e1672. doi: 10.1210/clinem/dgab826. J Clin Endocrinol Metab. 2022. PMID: 34788830 Free PMC article.
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 MJ, Engel H, Jakobs B, Kemper EA, van den Akker ELT, van Albada ME, Bocca G, Finken MJJ, Hannema SE, Mieke Houdijk ECA, van der Kamp HJ, van Tellingen V, Paul van Trotsenburg AS, Zwaveling-Soonawala N, Bosch AM, de Jonge R, Heijboer AC, Claahsen-van der Grinten HL, Boelen A. Stroek K, et al. Among authors: van tellingen v. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4487-e4496. doi: 10.1210/clinem/dgab464. J Clin Endocrinol Metab. 2021. PMID: 34171085