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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 duyvenvoorde ha, van haeringen a, van tellingen v, van der kaay dcm, van hul w. 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.
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
Lauffer P, Miranda-Laferte E, van Duyvenvoorde HA, van Haeringen A, Werner F, Boudin E, Schmidt H, Mueller TD, Kuhn M, van der Kaay DCM. Lauffer P, et al. Among authors: van duyvenvoorde ha, van haeringen a, van der kaay dcm. J Clin Endocrinol Metab. 2020 Jul 1;105(7):2354-66. doi: 10.1210/clinem/dgaa190. J Clin Endocrinol Metab. 2020. PMID: 32282051 Free PMC article.
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
Bindels-de Heus KGCB, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Encore Expertise Center For As, Elgersma Y, de Wit MY, Mous SE, Moll HA. Bindels-de Heus KGCB, et al. Among authors: van der kaay dcm. J Clin Med. 2023 Sep 15;12(18):5981. doi: 10.3390/jcm12185981. J Clin Med. 2023. PMID: 37762921 Free PMC article.
Insulin-like growth factor-binding protein-1: serum levels, promoter polymorphism, and associations with components of the metabolic syndrome in short subjects born small for gestational age.
van der Kaay D, Deal C, de Kort S, Willemsen R, Leunissen R, Ester W, Paquette J, van Doorn J, Hokken-Koelega A. van der Kaay D, et al. J Clin Endocrinol Metab. 2009 Apr;94(4):1386-92. doi: 10.1210/jc.2008-1430. Epub 2009 Jan 21. J Clin Endocrinol Metab. 2009. PMID: 19158202
48 results