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- 2017
- Increased aortic stiffness in prepubertal girls with Turner syndrome
- 2016
- Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome
- IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management
- PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
- Sertoli-Leydig cell tumor as a rare cause of hirsutism in a young adolescent
- 2015
- Quantitative bone ultrasound at the distal radius in adults with cystic fibrosis
- Pediatric reference values for tibial trabecular bone mineral density and bone geometry parameters using peripheral quantitative computed tomography
- Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment
- Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
- Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome