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

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature

病例报告：由SEPTIN9基因突变引起的帕森内奇-特纳综合征：一例意大利家庭儿童期发病病例报告及文献综述

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1589397
Bosisio, Luca; Cataldi, Matteo; Grandis, Marina; Tappino, Barbara; Traverso, Monica; Germano, Francesco; Nobili, Lino; Fiorillo, Chiara
发表日期：2025
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Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review

手部僵硬并非仅仅是风湿病体征：一例早期发病的III-γ型黏脂沉积症病例报告及文献复习

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101246
La Rosa, Alessandro; Pepe, Alessia; Tappino, Barbara; Corsolini, Fabio; Chiaro, Andrea; Madeo, Annalisa
发表日期：2025
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Essential elements nurses have to address to promote a safe discharge in paediatrics: A systematic review and narrative synthesis

护士在促进儿科患者安全出院方面必须关注的关键要素：系统评价和叙述性综合分析

期刊:
影响因子:
doi:10.1002/nop2.2043
Rossi, Silvia; Hayter, Mark; Zuco, Alice; Tappino, Francesca; Tirone, Roberta; Scelsi, Silvia
发表日期：2024
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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

神经纤维瘤病1型患儿的烟雾病血管病变：RNF213罕见变异的作用

期刊:Cancers
影响因子:4.4
doi:10.3390/cancers15061916
Ognibene, Marzia; Scala, Marcello; Iacomino, Michele; Schiavetti, Irene; Madia, Francesca; Traverso, Monica; Guerrisi, Sara; Di Duca, Marco; Caroli, Francesco; Baldassari, Simona; Tappino, Barbara; Romano, Ferruccio; Uva, Paolo; Vozzi, Diego; Chelleri, Cristina; Piatelli, Gianluca; Diana, Maria Cristina; Zara, Federico; Capra, Valeria; Pavanello, Marco; De Marco, Patrizia
发表日期：2023
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GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

GAU-PED 研究旨在早期诊断伴有脾肿大和血细胞减少的戈谢病患儿

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02760-z
Pession, Andrea; Di Rocco, Maja; Venturelli, Francesco; Tappino, Barbara; Morello, William; Santoro, Nicola; Giordano, Paola; Filippini, Beatrice; Rinieri, Simona; Russo, Giovanna; Girardi, Katia; Ruggiero, Antonio; Galea, Eulalia; Antonucci, Roberto; Tovaglieri, Nicola; Porta, Fulvio; Tartaglione, Immacolata; Giona, Fiorina; Fagioli, Franca; Burlina, Alberto
细胞生物学
发表日期：2023
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Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia

针对未确诊血糖异常的下一代测序 (NGS) 目标方法

期刊:Life-Basel
影响因子:
doi:10.3390/life13051080
Concetta Aloi, Alessandro Salina, Francesco Caroli, Renata Bocciardi, Barbara Tappino, Marta Bassi, Nicola Minuto, Giuseppe d'Annunzio, Mohamad Maghnie
信号转导
发表日期：2023
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Assessing Health-Related Quality of Life in Children with Coeliac Disease: The Italian Version of CDDUX

评估乳糜泻患儿的健康相关生活质量：CDDUX 的意大利语版本

期刊:Nutrients
影响因子:5
doi:10.3390/nu13020485
Crocco, Marco; Calvi, Angela; Gandullia, Paolo; Malerba, Federica; Mariani, Anthea; Di Profio, Sonia; Tappino, Barbara; Bonassi, Stefano
代谢
CDD
乳糜泻
发表日期：2021
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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

一例重症VII型黏多糖贮积症新病例报告：诊断、造血干细胞移植治疗及第二次妊娠产前诊断

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-018-0566-x
Furlan, Francesca; Rovelli, Attilio; Rigoldi, Miriam; Filocamo, Mirella; Tappino, Barbara; Friday, Douglas; Gasperini, Serena; Mariani, Silvana; Izzi, Claudia; Bondioni, Maria Pia; Gellera, Cinzia; Venerando, Anna; Villa, Nicoletta; Del Carmen Rodriguez Perez, Maria; Pavan, Fabio; Biondi, Andrea; Parini, Rossella
干细胞
发育与干细胞
细胞生物学
发表日期：2018
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Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

鉴定和表征导致克拉伯病的15种新的GALC基因突变

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21367
Tappino, Barbara; Biancheri, Roberta; Mort, Matthew; Regis, Stefano; Corsolini, Fabio; Rossi, Andrea; Stroppiano, Marina; Lualdi, Susanna; Fiumara, Agata; Bembi, Bruno; Di Rocco, Maja; Cooper, David N; Filocamo, Mirella
发表日期：2010
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