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The Journal of Clinical Endocrinology and Metabolism|November 20, 2013
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesisPeter Kühnen, Serap Turan, Sebastian Fröhler, et al.Pediatric Diabetes|November 23, 2016
Hypoglycemia is common in children with cystic fibrosis and seen predominantly in femalesBelma Haliloglu, Yasemin Gokdemir, Zeynep Atay, et al.The Journal of Clinical Endocrinology and Metabolism|October 23, 2012
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic casesSerap Turan, Jaakko Ignatius, Jukka S Moilanen, et al.Hormone Research in Paediatrics|June 30, 2026
Functional impact of a novel intronic TG variant in congenital goiter and thyroid dyshormonogenesisZehra Yavas Abalı, Esra Dirimtekin, Mehmet Eltan, et al.Proceedings of the National Academy of Sciences of the United States of America|April 13, 2012
Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism IbEduardo Fernández-Rebollo, Akira Maeda, Monica Reyes, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 26, 2010
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutationOuti Mäkitie, Renata C Pereira, Ilkka Kaitila, et al.Clinical Endocrinology|December 2, 2025
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 VariantsMehmet Eltan, Ceren Alavanda, İlknur Kurt, et al.Hormone Research in Paediatrics|August 29, 2019
Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene MutationMehmet Eltan, Zehra Yavas Abali, Esra Arslan Ates, et al.Calcified Tissue International|January 2, 2021
Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the LiteratureSare Betul Kaygusuz, Ceren Alavanda, Tarik Kirkgoz, et al.The Journal of Clinical Endocrinology and Metabolism|October 1, 2022
Liraglutide for Weight Management in Children and Adolescents With Prader-Willi Syndrome and ObesityGwenaëlle Diene, Moris Angulo, Paula M Hale, et al.Pageof 16