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S

Silvia Magno

University Hospital of Pisa
H指数:17
被引数:865

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Case Report: Familial partial lipodystrophy; description of novel and ultrarare variants with distinct phenotypic spectrum

病例报告：家族性部分脂肪营养不良；描述具有独特表型谱的新型和超罕见变异体

Frontiers in Endocrinology
IF4.6
2026-03-040
OAAI
SM Silvia Magno; CP Caterina Pelosini; MP Melania Paoli; DG Donatella Gilio; LP Lavinia Palladino; FM Francesca Menconi; AB Andrea Barison; GT Giancarlo Todiere; SO Simona Ortori; BC Barbara Coco; GP Giordano Paolucci; GS Guido Salvetti; MR Maria Rita Sessa; GC Giovanni Ceccarini; FS Ferruccio Santini
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant

MNGIE表型谱的扩展：与p.Arg393_Val400dup TYMP变异相关的脂肪营养不良和代谢改变

International Journal of Molecular Sciences 2025, Vol. 26, Page 9751
IF4.9
2025-10-070
OAAI
Donatella Gilio; Caterina Pelosini; Silvia Magno; Jacopo Maria Venanzi; Marta Daniotti; Melania Paoli; Lavinia Palladino; Maria Rita Sessa; Franco Ricci; Elena Procopio; Giovanni Ceccarini; Ferruccio Santini

研究方向

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G
Giovanni Ceccarini
H 指数:30论文数:132被引数:2,827
F
Ferruccio Santini
H 指数:55论文数:451被引数:1.3万
C
Caterina Pelosini
H 指数:18论文数:104被引数:1,061
D
Donatella Gilio
H 指数:7论文数:55被引数:199
M
Maria Rita Sessa
H 指数:9论文数:28被引数:201
M
Margherita Maffei
H 指数:37论文数:102被引数:2.6万
P
Pilar Nozal
H 指数:16论文数:64被引数:749
D
David Araújo‐Vilar
H 指数:25论文数:116被引数:2,686
F
Fernando Corvillo
H 指数:13论文数:33被引数:394
M
Margarita López‐Trascasa
H 指数:43论文数:203被引数:6,774