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

Keeping up the beat of Kleefstra syndrome

保持克利夫斯特拉综合症的节奏

Marchetti, Giulia Bruna; Gaudioso, Federica; Meossi, Camilla; Mura, Michela; Agostoni, Carlo; Gervasini, Cristina; Massa, Valentina; Pezzoli, Laura; Iascone, Maria; Milani, Donatella

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center

谱系图谱:大型染色质病队列的临床和遗传特征分析——来自三级中心的30年经验

Marchetti, Giulia Bruna; Rosina, Erica; Meossi, Camilla; Mura, Michela; Pezzani, Lidia; Selicorni, Angelo; Bedeschi, Maria Francesca; Tenconi, Romano; Agostoni, Carlo; Finelli, Palma; De Matteis, Sara; Di Fede, Elisabetta; Massa, Valentina; Pezzoli, Laura; Gervasini, Cristina; Iascone, Maria; Milani, Donatella

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2

卡布奇综合征2型新病例的癫痫痉挛和RNA分析

Privitera, Flavia; Meossi, Camilla; Santorelli, Filippo Maria; Bartolini, Emanuele

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association

贝克威思-威德曼综合征谱系(BWSp):意大利BWSp协会科学委员会关于诊断、治疗和随访的最新进展

Russo, Silvia; Milani, Donatella; Meossi, Camilla; Marcucci, Lorenzo; Pajno, Roberta; Butti, Niccolò; Cocchi, Guido; Tannorella, Pierpaola; Bertoletti, Monica; Carli, Diana; Meazzini, Maria Costanza; Tortora, Chiara; Ferrari, Mario; Zampino, Giuseppe; Massuras, Stefania; Ferrero, Giovanni Battista; Quarello, Paola; Rossetti, Giulia; Montirosso, Rosario; De Pellegrin, Maurizio; Riccio, Andrea; Mussa, Alessandro

Unexpected Clinically Relevant Findings Detected via Computed Tomography in Patients with Severe Aortic Stenosis Who Are Candidates for Transcatheter Aortic Valve Replacement

计算机断层扫描在重度主动脉瓣狭窄且适合经导管主动脉瓣置换术的患者中检测到意想不到的临床相关发现

Bianchi, Nicola; Frascaro, Federica; Zanarelli, Luca; Marchini, Federico; Sanguettoli, Federico; Meossi, Sofia; Serenelli, Matteo; Leone, Alessandro; Penzo, Carlo; Tumscitz, Carlo; Campo, Gianluca; Pavasini, Rita

Paravalvular Leak After Transcatheter Aortic Valve Replacement (TAVR): A Literature Review

经导管主动脉瓣置换术(TAVR)后瓣周漏:文献综述

Sciaramenti, Giorgio; Menzato, Edoardo; Clo', Stefano; Izzo, Carmen; Rotondo, Laura; Dal Passo, Beatrice; Meossi, Sofia; Tezze, Renè; Frascaro, Federica; Tonet, Elisabetta; Marchini, Federico; Cocco, Marta; Tumscitz, Carlo; Penzo, Carlo; Campo, Gianluca; Pavasini, Rita

Cardiac CT in Non-Obstructive Coronary Artery Disease (NOCAD): A Literature Review

非阻塞性冠状动脉疾病(NOCAD)的心脏CT:文献综述

Meossi, Sofia; Izzo, Carmen; Rotondo, Laura; Sciaramenti, Giorgio; Menzato, Edoardo; Dal Passo, Beatrice; Tezze, Renè; Frascaro, Federica; Tonet, Elisabetta; Marchini, Federico; Campo, Gianluca; Pavasini, Rita

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series

胍基乙酸N-甲基转移酶缺乏症的动态电生理临床特征:一个家族病例系列

Schifino, Mariapaola; Bartolini, Emanuele; Pagano, Stefano; Meossi, Camilla; Pasquariello, Rosa; Battini, Roberta

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study

扩展与 PACS1 中 Arg203Trp 复发性变异相关的临床谱:一项意大利队列研究

Pagano, Stefano; Lopergolo, Diego; De Falco, Alessandro; Meossi, Camilla; Satolli, Sara; Pasquariello, Rosa; Trovato, Rosanna; Tessa, Alessandra; Casalini, Claudia; Pfanner, Lucia; Astrea, Guja; Battini, Roberta; Santorelli, Filippo M