B. Donadille

发表论文 60 篇 · 总被引 2074 次 · h-index 21

代表论文

• The Human Phenotype Ontology in 2024: phenotypes around the world (2023 · Nucleic Acids Research · 被引 340)
• Molecular and Cellular Bases of Lipodystrophy Syndromes (2022 · Frontiers in Endocrinology · 被引 74)
• Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) (2022 · Orphanet Journal of Rare Diseases · 被引 38)
• Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network (2022 · Diabetes, obesity and metabolism · 被引 31)
• Added value of buccal cell FISH analysis in the diagnosis and management of Turner syndrome. (2020 · Human Reproduction · 被引 24)
• Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) (2022 · Orphanet Journal of Rare Diseases · 被引 23)