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

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

六名意大利家族性渗出性玻璃体视网膜病变患者的新变异基因型-表型特征分析

Iarossi, Giancarlo; Bertelli, Matteo; Maltese, Paolo Enrico; Gusson, Elena; Marchini, Giorgio; Bruson, Alice; Benedetti, Sabrina; Volpetti, Sabrina; Catena, Gino; Buzzonetti, Luca; Ziccardi, Lucia

Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy"

关于“六名意大利家族性渗出性玻璃体视网膜病变患者新变异的基因型-表型特征”的更正

Iarossi, Giancarlo; Bertelli, Matteo; Maltese, Paolo Enrico; Gusson, Elena; Marchini, Giorgio; Bruson, Alice; Benedetti, Sabrina; Volpetti, Sabrina; Catena, Gino; Buzzonetti, Luca; Ziccardi, Lucia

High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD)

高分辨率熔解曲线法作为常染色体显性多囊肾病(ADPKD)的筛查方法

Virzì, Grazia Maria; Bruson, Alice; Corradi, Valentina; Gastaldon, Fiorella; de Cal, Massimo; Donà, Marta; Cruz, Dinna N; Clementi, Maurizio; Ronco, Claudio

Catechol-O-methyltransferase genotype modifies executive functioning and prefrontal functional connectivity in women with anorexia nervosa

儿茶酚-O-甲基转移酶基因型会影响神经性厌食症女性的执行功能和前额叶功能连接

Favaro, Angela; Clementi, Maurizio; Manara, Renzo; Bosello, Romina; Forzan, Monica; Bruson, Alice; Tenconi, Elena; Degortes, Daniela; Titton, Francesca; Di Salle, Francesco; Santonastaso, Paolo

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

SCN1A 基因多态性与儿童和青少年原发性头痛和特发性或隐源性癫痫之间是否存在关联?

Toldo, Irene; Bruson, Alice; Casarin, Alberto; Salviati, Leonardo; Boniver, Clementina; Sartori, Stefano; Montagna, Pasquale; Battistella, Pier Antonio; Clementi, Maurizio