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

PLAG1-Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?

儿童和成人PLAG1重排纤维黏液样和脂肪瘤样肿瘤:是不同的疾病实体还是形态学谱系?

Andrei, Vanghelita; Zheleznyakova, Elena; Cavalchini, Silvia; Chalker, Jane; Hubank, Michael; Tirabosco, Roberto; O'Donnell, Paul; Amary, Fernanda; Flanagan, Adrienne M

A new diagnostic sampling method in pure neural leprosy: the scraping of the myelin sheath

一种新的纯神经型麻风病诊断取样方法:髓鞘刮取术

Trave, Ilaria; Cavalchini, Alberto; Barabino, Gianfranco; Parodi, Aurora

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

填补空白:对携带单等位基因MUTYH致病变异的未确诊息肉病患者进行彻底的基因诊断调查

Dell'Elice, Anastasia; Cini, Giulia; Fornasarig, Mara; Armelao, Franco; Barana, Daniela; Bianchi, Francesca; Casalis Cavalchini, Guido Claudio; Maffè, Antonella; Mammi, Isabella; Pedroni, Monica; Percesepe, Antonio; Sorrentini, Italo; Tibiletti, Mariagrazia; Maestro, Roberta; Quaia, Michele; Viel, Alessandra

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

一种独特的 MSH2 外显子 8 缺失是撒丁岛裔林奇综合征家族中所有错配修复基因突变的主要原因。

Borelli, Iolanda; Barberis, Marco A; Spina, Francesca; Casalis Cavalchini, Guido C; Vivanet, Caterina; Balestrino, Luisa; Micheletti, Monica; Allavena, Anna; Sala, Paola; Carcassi, Carlo; Pasini, Barbara