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Hormone Research in Paediatrics|March 12, 2024
National Service Evaluation of the Quality of Care for Children and Young People with Congenital Adrenal Hyperplasia in the UK: Survey Responses from Patients and CliniciansNeil R Lawrence, Irina A Bacila, Gary Collins, et al.
The Journal of Clinical Investigation|June 20, 2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesityShwetha Ramachandrappa, Anne Raimondo, Anna M G Cali, et al.
Endocrine Connections|February 28, 2018
Growth Hormone Research Society perspective on biomarkers of GH action in children and adultsGudmundur Johannsson, Martin Bidlingmaier, Beverly M K Biller, et al.
The New England Journal of Medicine|July 8, 2026
Setmelanotide for the Treatment of Acquired Hypothalamic ObesityJennifer L Miller, Hanneke M van Santen, Susan A Phillips, et al.
European Journal of Endocrinology|January 16, 2026
International guideline on genetic testing of children with short statureAndrew Dauber, Alexander A L Jorge, Ola Nilsson, et al.
The Journal of Clinical Endocrinology and Metabolism|August 16, 2016
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-SituAdeline K Nicholas, Eva G Serra, Hakan Cangul, et al.
The Journal of Clinical Investigation|November 19, 2010
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humansErik Schoenmakers, Maura Agostini, Catherine Mitchell, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
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