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PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
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- Journal Article
- A1
- open access
Cognitive, emotional,and psychosocial functioning of girls treated with pharmacological puberty blockage for idiopathic central precocious puberty
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
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Androgens and obesity in male adolescents
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Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension
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- Journal Article
- A1
- open access
Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome
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Quantitative bone ultrasound at the distal radius in adults with cystic fibrosis
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Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape