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Hormone Research in Paediatrics|January 19, 2026
Unmet Medical Needs in Pediatric EndocrinologyStefano Cianfarani, Sommayya Aftab, Kanetee Busiah, et al.The Journal of Clinical Endocrinology and Metabolism|October 13, 2018
A New Multisystem Disorder Caused by the Gαs Mutation p.F376VHeike Biebermann, Gunnar Kleinau, Dirk Schnabel, et al.The Journal of Clinical Endocrinology and Metabolism|July 31, 2019
Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase DeficiencyIrina Bacila, Jo Adaway, James Hawley, et al.Proceedings of the National Academy of Sciences of the United States of America|October 20, 2019
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical developmentTeresa G Krieger, Carla M Moran, Alberto Frangini, et al.Human Molecular Genetics|June 6, 2009
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismAdam J de Smith, Carolin Purmann, Robin G Walters, et al.Nephron. Physiology|November 1, 2014
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR MutationsArabella Simpkin, Elaine Cochran, Fergus Cameron, et al.Journal of Pediatric Surgery|August 26, 2020
Treating papillary and follicular thyroid cancer in children and young people: Single UK-center experience between 2003 and 2018Mechteld C de Jong, Mark N Gaze, Elwira Szychot, et al.JCI Insight|October 22, 2016
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutationsIsabel Huang-Doran, Patsy Tomlinson, Felicity Payne, et al.Journal of the Endocrine Society|December 22, 2017
Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?Carla Moran, Abdelhadi M Habeb, George J Kahaly, et al.The New England Journal of Medicine|December 16, 2011
A mutation in the thyroid hormone receptor alpha geneElena Bochukova, Nadia Schoenmakers, Maura Agostini, et al.Pageof 6