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Diabetologia|November 30, 2017
Systems biology of the IMIDIA biobank from organ donors and pancreatectomised patients defines a novel transcriptomic signature of islets from individuals with type 2 diabetesMichele Solimena, Anke M Schulte, Lorella Marselli, et al.The Journal of Clinical Endocrinology and Metabolism|March 11, 2016
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and DifferencesRosa Vargas-Poussou, Lamisse Mansour-Hendili, Stéphanie Baron, et al.The Journal of Clinical Endocrinology and Metabolism|December 17, 2021
High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large CohortLaura Gabriela González Briceño, Dulanjalee Kariyawasam, Dinane Samara-Boustani, et al.The Journal of Clinical Endocrinology and Metabolism|December 15, 2010
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patientsLaurent Maimoun, Pascal Philibert, Benoit Cammas, et al.American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.Nature Communications|December 21, 2017
Type I interferon-mediated autoinflammation due to DNase II deficiencyMathieu P Rodero, Alessandra Tesser, Eva Bartok, et al.The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.European Journal of Endocrinology|March 23, 2022
Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statementMargaret C S Boguszewski, Cesar L Boguszewski, Wassim Chemaitilly, et al.Pageof 34