Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
2024 · European Journal of Human Genetics · 52 citations
https://doi.org/10.1038/s41431-024-01634-7
H
Héléna Mosbah
Inserm(FR)
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Héléna Mosbah is an academic researcher from Inserm. The author has contributed to research in topics: Nuclear Structure and Function & Genetic Syndromes and Imprinting & RNA Research and Splicing. The author has an h-index of 15, co-authored 79 publications.
ORCID: 0000-0001-7360-4209Papers by this author
worksDunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
2022 · Orphanet Journal of Rare Diseases · 27 citations
https://doi.org/10.1186/s13023-022-02308-7
Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome
2021 · Orphanet Journal of Rare Diseases · 13 citations
https://doi.org/10.1186/s13023-021-01833-1
Safety and effectiveness in an uncontrolled setting of glucagon‐like‐peptide‐1 receptor agonists in patients with familial partial lipodystrophy: Real‐life experience from a national reference network
2025 · Diabetes Obesity and Metabolism · 8 citations
https://doi.org/10.1111/dom.16175
Leptin replacement therapy in the management of lipodystrophy syndromes
2024 · Annales d Endocrinologie · 7 citations
https://doi.org/10.1016/j.ando.2024.05.022
Chapter 9: Indications for the treatment of primary hyperparathyroidism
2025 · Annales d Endocrinologie · 6 citations
https://doi.org/10.1016/j.ando.2025.101698
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