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

A tough NUT carcinoma to crack

难以攻克的NUT癌

Celi, Alessandra; Bruno, Rossella; Vignali, Paola; Petrini, Iacopo; Valetto, Angelo; Bertini, Veronica; Fanucchi, Olivia; Chella, Antonio; Alì, Greta

Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4

病例报告:一例家族性自闭症谱系障碍合并双相情感障碍病例,显示存在20q11.21微重复,包括TM9SF4基因。

Simoncini, Marly; Violi, Miriam; Valetto, Angelo; Bertini, Veronica; Cruz-Sanabria, Francy; Massoni, Leonardo; Dell'Osso, Liliana; Carmassi, Claudia

Maintenance of liver glycogen during long-term fasting preserves energy state in mice

长期禁食期间肝糖原的维持可保持小鼠的能量状态

Iliana López-Soldado, Angelo Bertini, Anna Adrover, Jordi Duran, Joan J Guinovart

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy

进行性肌阵挛性癫痫的最佳证据:通往精准治疗之路

Orsini, Alessandro; Valetto, Angelo; Bertini, Veronica; Esposito, Mariagrazia; Carli, Niccolò; Minassian, Berge A; Bonuccelli, Alice; Peroni, Diego; Michelucci, Roberto; Striano, Pasquale

Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

新一代测序技术助力莱氏综合征悬案成功诊断

Aretini, Paolo; Mazzanti, Chiara Maria; La Ferla, Marco; Franceschi, Sara; Lessi, Francesca; De Gregorio, Veronica; Nesti, Claudia; Valetto, Angelo; Bertini, Veronica; Toschi, Benedetta; Battini, Roberta; Caligo, Maria Adelaide

Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup

骨髓增生异常综合征:细胞遗传学和分子诊断联合检测的优势

Ciabatti, Elena; Valetto, Angelo; Bertini, Veronica; Ferreri, Maria Immacolata; Guazzelli, Alice; Grassi, Susanna; Guerrini, Francesca; Petrini, Iacopo; Metelli, Maria Rita; Caligo, Maria Adelaide; Rossi, Simona; Galimberti, Sara

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

等臂双着丝粒Y染色体和三个SHOX基因拷贝导致的矮小症:临床报告及文献综述

Valetto, Angelo; Bertini, Veronica; Michelucci, Angela; Toschi, Benedetta; Dati, Eleonora; Baroncelli, Giampietro I; Bertelloni, Silvano