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Frontiers in Endocrinology|July 11, 2022
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 MutationsCaroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, et al.
Journal of Inherited Metabolic Disease|September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defectClaire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
Endocrine Connections|January 6, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in FranceEstelle Bonnet, Mathias Winter, Delphine Mallet, et al.
Annales D'Endocrinologie|September 11, 2021
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)Sophie Christin-Maitre, Maria Givony, Frédérique Albarel, et al.
The Lancet. Diabetes & Endocrinology|March 14, 2014
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]Kanetee Busiah, Séverine Drunat, Laurence Vaivre-Douret, et al.
Orphanet Journal of Rare Diseases|March 12, 2025
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyIphigénie Cavadias, Magali Viaud, Marie Falampin, et al.
Science Advances|December 9, 2022
PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruptionSophia Ladraa, Lola Zerbib, Charles Bayard, et al.
Orphanet Journal of Rare Diseases|December 14, 2011
Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective studySophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, et al.
The Journal of Clinical Investigation|September 9, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndromeEnrico Virgilio, Sylvia Tielens, Georgia Bonfield, et al.
The Journal of Clinical Endocrinology and Metabolism|February 22, 2023
Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor TreatmentManon Rosimont, Dulanjalee Kariyawasam, Dinane Samara-Boustani, et al.
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