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

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities

分析语言能力极低的自闭症儿童和青少年的基因谱

Guerrera, Silvia; Venezia, Ilaria; Logrieco, Maria Grazia; Casula, Laura; Capolino, Rossella; Digilio, Maria Cristina; Dentici, Maria Lisa; Macchiaiolo, Marina; Casciani, Federico; Cortellessa, Fabiana; Sinibaldi, Lorenzo; Bartuli, Andrea; Di Tommaso, Silvia; D'Elia, Gemma; Alesi, Viola; Roberti, Cristina; Novelli, Antonio; Valeri, Giovanni; Vicari, Stefano

Experimental generation of optimally chiral azimuthally-radially polarized beams

实验生成最优手性方位角-径向偏振光束

Herrero-Parareda, Albert; Perez, Nicolas; Capolino, Filippo; Preece, Daryl

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles

TUBB2B 基因中的 p.Ile202Thr 替换可能与先天性眼外肌纤维化的综合征表现相关。

Mancini, Cecilia; Chiriatti, Luigi; Bruselles, Alessandro; D'ambrosio, Paola; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Carvetta, Mattia; Radio, Francesca Clementina; Cordeddu, Viviana; Niceta, Marcello; Parrino, Marta; Capolino, Rossella; Mammì, Corrado; Senese, Rossana; Muto, Mario; Priolo, Manuela; Tartaglia, Marco

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features

Shashi-Pena综合征的临床变异性:一种与过度生长和轻微神经发育特征相关的新型ASXL2变异

Minotti, Chiara; Graziani, Ludovico; Micalizzi, Alessia; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Lanari, Valentina; Dallapiccola, Bruno; Novelli, Giuseppe; Novelli, Antonio; Digilio, Maria Cristina

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

分子确诊的索托斯综合征患者的先天性心脏缺陷

Calcagni, Giulio; Ferrigno, Federica; Franceschini, Alessio; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Minotti, Chiara; Micalizzi, Alessia; Alesi, Viola; Novelli, Antonio; Baban, Anwar; Parlapiano, Giovanni; Coviello, Domenico; Versacci, Paolo; Putotto, Carolina; Chinali, Marcello; Drago, Fabrizio; Bartuli, Andrea; Marino, Bruno; Digilio, Maria Cristina

Direct detection of photoinduced magnetic force at the nanoscale reveals magnetic nearfield of structured light

直接探测纳米尺度的光致磁力揭示了结构光的磁近场

Zeng, Jinwei; Albooyeh, Mohammad; Rajaei, Mohsen; Sifat, Abid Anjum; Potma, Eric O; Wickramasinghe, H Kumar; Capolino, Filippo

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

NF1基因内的基因内倒位是1型神经纤维瘤病的致病机制

Alesi, Viola; Lepri, Francesca Romana; Dentici, Maria Lisa; Genovese, Silvia; Sallicandro, Ester; Bejo, Kristel; Dallapiccola, Bruno; Capolino, Rossella; Novelli, Antonio; Digilio, Maria Cristina

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

全基因组DNA甲基化谱分析解决了NSD1变异体分类的不确定性

Ferilli, Marco; Ciolfi, Andrea; Pedace, Lucia; Niceta, Marcello; Radio, Francesca Clementina; Pizzi, Simone; Miele, Evelina; Cappelletti, Camilla; Mancini, Cecilia; Galluccio, Tiziana; Andreani, Marco; Iascone, Maria; Chiriatti, Luigi; Novelli, Antonio; Micalizzi, Alessia; Matraxia, Marta; Menale, Lucia; Faletra, Flavio; Prontera, Paolo; Pilotta, Alba; Bedeschi, Maria Francesca; Capolino, Rossella; Baban, Anwar; Seri, Marco; Mammì, Corrado; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Priolo, Manuela; Tartaglia, Marco

Usefulness of High-Sensitivity Troponin I in Risk Stratification and Final Disposition of Patients with Acute Heart Failure in the Emergency Department: Comparison between HFpEF vs. HFrEF

高敏肌钙蛋白I在急诊科急性心力衰竭患者风险分层和最终处置中的应用价值:HFpEF与HFrEF的比较

Crisanti, Luca; Valli, Gabriele; Cennamo, Elisa; Capolino, Alessandro; Fratini, Paolo; Cesaro, Claudio; Adducchio, Gloria; De Magistris, Antonio; Terlizzi, Ferdinando; Ruggieri, Maria Pia; Mirante, Enrico; Savoriti, Claudio; Sukruang, Kalyarat; Valeriano, Valentina; Pugliese, Francesco Rocco; Travaglino, Francesco; Di Somma, Salvatore

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

利用DECIPHER数据识别先天性膈疝附加症(CDH+)的表型扩展

Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A