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

A novel STING variant triggers endothelial toxicity and SAVI disease

一种新型 STING 变体可引发内皮毒性和 SAVI 疾病

Erika Valeri, Sara Breggion, Federica Barzaghi, Monah Abou Alezz, Giovanni Crivicich, Isabel Pagani, Federico Forneris, Claudia Sartirana, Matteo Costantini, Stefania Costi, Achille Marino, Eleonora Chiarotto, Davide Colavito, Rolando Cimaz, Ivan Merelli, Elisa Vicenzi, Alessandro Aiuti, Anna Kajast

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene

SPINK5 基因杂合移码突变与纯合 c.1258A>G 多态性共同导致的 Netherton 综合征

Chiara Moltrasio, Maurizio Romagnuolo, Davide Riva, Davide Colavito, Silvia Mariel Ferrucci, Angelo Valerio Marzano, Gianluca Tadini, Michela Brena

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

新型 CARMIL2 功能丧失变异与儿童炎症性肠病有关

Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B Snapper, Thomas D Walters, Alberta Leon, Anne M Griffiths, Ma

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis

连锁视网膜劈裂症新突变导致的视网膜结构长期重排

Stefano Piermarocchi, Stefania Miotto, Davide Colavito, Elda Del Giudice, Alberta Leon, Veronica Maritan, Rita Piermarocchi, Alma Patrizia Tormene

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene

由 AFG3 类基质 AAA 肽酶亚基 2 基因 p.R468C 突变引起的非综合征性孤立性显性视神经萎缩

Davide Colavito, Veronica Maritan, Agnese Suppiej, Elda Del Giudice, Monica Mazzarolo, Stefania Miotto, Sofia Farina, Maurizio Dalle Carbonare, Stefano Piermarocchi, Alberta Leon