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

22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D

22q11.21缺失:低拷贝重复序列C和D介导的区间综述

Bertini, Veronica; Cambi, Francesca; Legitimo, Annalisa; Costagliola, Giorgio; Consolini, Rita; Valetto, Angelo

Application of ChatGPT as a content generation tool in continuing medical education: acne as a test topic

ChatGPT在继续医学教育中作为内容生成工具的应用:以痤疮为例

Naldi, Luigi; Bettoli, Vincenzo; Santoro, Eugenio; Valetto, Maria Rosa; Bolzon, Anna; Cassalia, Fortunato; Cazzaniga, Simone; Cima, Sergio; Danese, Andrea; Emendi, Silvia; Ponzano, Monica; Scarpa, Nicoletta; Dri, Pietro

The use of artificial intelligence in healthcare as perceived by the citizens and patients: a narrative review of the literature

公民和患者对人工智能在医疗保健领域应用的看法:文献综述

Nuccetelli, Fabiana; Gabellone, Valeria; Marsano, Francesca; Giovanetti, Francesca; Dri, Pietro; Valetto, Maria Rosa; Prato, Rosa

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

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development

一名SRY阴性男孩患有46,XX性发育障碍,其双性基因和Mab-3相关转录因子1 (DMRT1)基因存在串联重复

Bertini, Veronica; Baldinotti, Fulvia; Parma, Pietro; Tyutyusheva, Nina; Sepich, Margherita; Bertolucci, Giulia; Rosano, Camillo; Caligo, Maria Adelaide; Peroni, Diego; Valetto, Angelo; Bertelloni, Silvano

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

一组无 22q11.2 缺失的 DiGeorge 表型患者的临床、免疫学和遗传学发现

Alberio, Antonino Maria Quintilio; Legitimo, Annalisa; Bertini, Veronica; Baroncelli, Giampiero I; Costagliola, Giorgio; Valetto, Angelo; Consolini, Rita

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Poirier-Bienvenu综合征表型扩展:来自意大利多中心患者队列的新证据

Orsini, Alessandro; Santangelo, Andrea; Bravin, Francesca; Bonuccelli, Alice; Peroni, Diego; Battini, Roberta; Foiadelli, Thomas; Bertini, Veronica; Valetto, Angelo; Iacomino, Michele; Nigro, Vincenzo; Torella, Anna Laura; Scala, Marcello; Capra, Valeria; Vari, Maria Stella; Fetta, Anna; Di Pisa, Veronica; Montanari, Francesca; Epifanio, Roberta; Bonanni, Paolo; Giorda, Roberto; Operto, Francesca; Pastorino, Grazia; Sarigecili, Esra; Sardaroglu, Esra; Okuyaz, Cetin; Bozdogan, Sevgan; Musante, Luciana; Faletra, Flavio; Zanus, Caterina; Ferretti, Alessandro; Vigevano, Federico; Striano, Pasquale; Cordelli, Duccio Maria

Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature

NFIA 单倍体不足的表型谱:另外两例病例和文献综述

Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto

Vitamin D status and the immune assessment in 22q11.2 deletion syndrome

维生素D水平和22q11.2缺失综合征的免疫评估

Legitimo, A; Bertini, V; Costagliola, G; Baroncelli, G I; Morganti, R; Valetto, A; Consolini, R