- Identifying familial hypercholesterolemia in pediatric and adult patients: is screening relevant in a tertiary care setting?
- Proximal aortic stiffening in Turner patients may be present before dilation can be detected : a segmental functional MRI study
- Increased aortic stiffness in prepubertal girls with Turner syndrome
- Clinical presentation and outcome of children with central diabetes insipidus associated with a self-limited or transient pituitary stalk thickening, diagnosed as infundibuloneurohypophysitis
Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome
2016) JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY. 8(1). p.86-91 Mark(
- Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
- IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management
- Proximal aortic stiffening in Turner patients is more pronounced in the presence of a bicuspid valve. A segmental functional MRI study
- 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
- Cognitive, emotional,and psychosocial functioning of girls treated with pharmacological puberty blockage for idiopathic central precocious puberty
- Quantitative bone ultrasound at the distal radius in adults with cystic fibrosis
- Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
- 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