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738 results on '"Carel, Jean Claude"'

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1. Diagnosis and management of congenital hypopituitarism in children

3. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)

4. Lessons from prospective longitudinal follow-up of a French APECED cohort

5. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

9. Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases

10. Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding study

11. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

14. BPIFB1 Is a Lung-Specific Autoantigen Associated with Interstitial Lung Disease

16. Gene expression signature predicts rate of type 1 diabetes progression

23. Glucocorticoid induced adrenal insufficiency in children: Morning cortisol values to avoid LDSST

25. European Consortium of Lipodystrophies Registry, 2022

29. Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

33. Pulmonary Autoimmunity as a Feature of Autoimmune Polyendocrine Syndrome Type 1 and Identification of KCNRG as a Bronchial Autoantigen

35. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

44. Implication of Heterozygous Variants in Genes of the Leptin–Melanocortin Pathway in Severe Obesity

47. Prevalence and course of thyroid dysfunction in neonates at high risk of Graves’ disease or with non-autoimmune hyperthyroidism

48. Precocious puberty

49. SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis

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