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

Post-Infectious Bronchiolitis Obliterans as a Model of Immune-Mediated Airway Fibrosis: A Pediatric Case Report

感染后闭塞性细支气管炎作为免疫介导气道纤维化的模型:一例儿科病例报告

Terracciano, Rosamaria; Mazzoni, Martina; Rossi, Alessandro; Antonelli, Fabio; Vuilleumier, Pierluigi; Melis, Daniela; Allegorico, Annalisa

Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

多组学方法可深入了解Ia型糖原贮积症患者的胆碱代谢改变和肝损伤。

Pirozzi, Francesca; Amiri, Ramin; Luni, Camilla; Rossi, Alessandro; Melis, Daniela; Fedele, Roberta; Rosano, Carmen; Strisciuglio, Pietro; Oosterveer, Maaike H; Derks, Terry G J; Parenti, Giancarlo; Caterino, Marianna; Ruoppolo, Margherita

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

肝糖原贮积症的内分泌机制:病理生理学及其对治疗的意义

Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G J

The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis

不明明亮物体在1型神经纤维瘤病患儿神经认知特征中的作用:一项体积磁共振成像分析

Di Stasi, Martina; Cocozza, Sirio; Buccino, Sara; Paolella, Chiara; Di Napoli, Linda; D'Amico, Alessandra; Melis, Daniela; Ugga, Lorenzo; Villano, Gianmichele; Ruocco, Manuel; Scala, Iris; Brunetti, Arturo; Elefante, Andrea

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

MRD48的临床特征分析及两种新型致病性RAC1变体的功能表征

Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

Beckwith-Wiedemann谱(BWSp)诊断评分系统的性能指标及其与癌症发展的相关性

Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D'Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro

Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia

糖原贮积症 Ia 型患者外周血单核细胞中的线粒体重编程

Rossi, Alessandro; Assunto, Antonia; Rosano, Carmen; Tucci, Sara; Ruoppolo, Margherita; Caterino, Marianna; Pirozzi, Francesca; Strisciuglio, Pietro; Parenti, Giancarlo; Melis, Daniela

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy

意大利第四波新冠疫情期间,急诊科严重急性呼吸综合征冠状病毒2 (SARS-CoV-2) 抗原检测:来自儿科队列的数据

Pepe, Angela; Valitutti, Francesco; Veneruso, Deborah; Bove, Martina; De Anseris, Anna Giulia Elena; Nazzaro, Lucia; Pisano, Pasquale; Melis, Daniela; Mandato, Claudia

Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature

先天性肾上腺皮质增生症诊断延迟对性别认同、性取向和性功能造成严重影响:病例报告及文献综述

Simeoli, Chiara; de Angelis, Cristina; Delli Veneri, Alessandra; Menafra, Davide; Di Paola, Nicola; Pivonello, Claudia; Di Somma, Carolina; Valerio, Paolo; Melis, Daniela; Alviggi, Carlo; Colao, Annamaria; Pivonello, Rosario

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

意大利患者队列中歌舞伎综合征的临床异质性及文献综述

Di Candia, Francesca; Fontana, Paolo; Paglia, Pamela; Falco, Mariateresa; Rosano, Carmen; Piscopo, Carmelo; Cappuccio, Gerarda; Siano, Maria Anna; De Brasi, Daniele; Mandato, Claudia; De Maggio, Ilaria; Squeo, Gabriella Maria; Monica, Matteo Della; Scarano, Gioacchino; Lonardo, Fortunato; Strisciuglio, Pietro; Merla, Giuseppe; Melis, Daniela