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The Journal of Clinical Endocrinology and Metabolism|December 13, 2024
Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus StatementAristides Maniatis, Wayne Cutfield, Mehul Dattani, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutationWaleed M Bawazir, Evelien F Gevers, Joanna F Flatt, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Thyroid : Official Journal of the American Thyroid Association|January 29, 2021
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic NeviEmery Di Cicco, Carla Moran, W Edward Visser, et al.
Clinical Endocrinology|October 27, 2011
Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiencyMaria Consolata Miletta, Ursina A Scheidegger, Mara Giordano, et al.
Clinical Endocrinology|March 23, 2016
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotypeQing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, et al.
Nature Reviews. Endocrinology|August 14, 2019
Addressing gaps in care of people with conditions affecting sex development and maturationOlaf Hiort, Martine Cools, Alexander Springer, et al.
The Journal of Clinical Endocrinology and Metabolism|August 14, 2013
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor αCarla Moran, Nadia Schoenmakers, Maura Agostini, et al.
Endocrine Connections|November 3, 2022
Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey studyAmir H Zamanipoor Najafabadi, Merel van der Meulen, Ana Luisa Priego Zurita, et al.
The Journal of Clinical Endocrinology and Metabolism|December 31, 2010
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyJan Idkowiak, Stephen O'Riordan, Nicole Reisch, et al.
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