日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics

扩大携带者筛查：群体基因组学时代的现有证据和未来方向

期刊:Genes
影响因子:
doi:10.3390/genes17010058
Pilenzi, Lucrezia; Scorrano, Vincenzo; Di Rado, Sara; Buccolini, Carlotta; Giansante, Roberta; Siciliani, Laura; Stuppia, Liborio; Gatta, Valentina; Capalbo, Antonio
发表日期：2026
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A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study

由AR基因新变异引起的完全性雄激素不敏感综合征的早期诊断：一例新生儿病例研究

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines12081742
Ferrante, Rossella; Tumini, Stefano; Saltarelli, Maria Alessandra; Di Rado, Sara; Scorrano, Vincenzo; Tommolini, Maria Lucia; Zucchelli, Mirco; Lauriola, Federico; Lisi, Gabriele; Lauriti, Giuseppe; Marino, Nino; Stuppia, Liborio; Rossi, Claudia; Bucci, Ines
免疫/内分泌
发表日期：2024
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Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2

在包含 250 名突变携带者亲属的多基因检测队列中检测种系突变：BRCA1/2 以外其他基因致病变异的影响

期刊:Cancers
影响因子:4.4
doi:10.3390/cancers15245730
Di Rado, Sara; Giansante, Roberta; Cicirelli, Michela; Pilenzi, Lucrezia; Dell'Elice, Anastasia; Anaclerio, Federico; Rimoldi, Martina; Grassadonia, Antonino; Grossi, Simona; Canale, Nicole; Ballerini, Patrizia; Stuppia, Liborio; Antonucci, Ivana
BRCA1
发表日期：2023
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Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease

基于非侵入性DBS的戈谢病临床诊断和治疗监测辅助方法

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines11102672
Rossi, Claudia; Ferrante, Rossella; Valentinuzzi, Silvia; Zucchelli, Mirco; Buccolini, Carlotta; Di Rado, Sara; Trotta, Daniela; Stuppia, Liborio; Federici, Luca; Aricò, Maurizio
发表日期：2023
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Warm Season Turfgrass Equine Sports Surfaces: An Experimental Comparison of the Independence of Simple Measurements Used for Surface Characterization

暖季型草坪马术运动场地：用于表面表征的简单测量方法独立性的实验比较

期刊:Animals
影响因子:2.7
doi:10.3390/ani13050811
Blanco, María Alejandra; Di Rado, Facundo Nicolas; Peterson, Michael Mick
发表日期：2023
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Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia

病例报告：CCDC103 变异导致一名无原发性纤毛运动障碍的职业运动员出现精子轴丝超微结构缺陷和精子完全丧失活力。

期刊:Frontiers in Genetics
影响因子:
doi:10.3389/fgene.2023.1062326
Luongo, Francesca Paola; Luddi, Alice; Ponchia, Rosetta; Ferrante, Rossella; Di Rado, Sara; Paccagnini, Eugenio; Gentile, Mariangela; Lupetti, Pietro; Guazzo, Raffaella; Orrico, Alfredo; Stuppia, Liborio; Piomboni, Paola
发表日期：2023
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The epigenetic aging, obesity, and lifestyle

表观遗传衰老、肥胖和生活方式

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2022.985274
Franzago, Marica; Pilenzi, Lucrezia; Di Rado, Sara; Vitacolonna, Ester; Stuppia, Liborio
肥胖
表观遗传
衰老
代谢
发表日期：2022
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