Federica Buonocore
UCL Great Ormond Street Institute Of Child Health, 30 Guilford Street
London, ENG WC1N1EH, United Kingdom
London, ENG WC1N1EH, United Kingdom
Last Updated: 09/26/2026
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Found 35 publications
International guideline on genetic testing of children with short stature.
Journal: European journal of endocrinology
Published: January 03, 2026
International guideline on genetic testing of children with short stature.
Journal: European journal of endocrinology
Published: January 03, 2026
Transcriptomic sex differences in early human fetal brain development.
Journal: Communications biology
Published: December 22, 2024
Mapping the anatomical and transcriptional landscape of early human fetal ovary development.
Journal: Scientific reports
Published: November 28, 2024
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 21, 2024
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Journal: Communications biology
Published: February 08, 2024
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Journal: Frontiers in endocrinology
Published: May 22, 2023
An integrated single-cell analysis of human adrenal cortex development.
Journal: JCI insight
Published: December 19, 2022
A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
Journal: Nature communications
Published: July 10, 2022
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Journal: Endocrine connections
Published: June 01, 2022
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Journal: Frontiers in endocrinology
Published: May 26, 2022
Last Updated: 09/26/2026