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

Dr. Eddie P. Bharucha (December 28, 1916–December 14, 2017)

艾迪·P·巴鲁查博士(Eddie P. Bharucha)(1916年12月28日至2017年12月14日)

Ezquerra-Inchausti, Maitane; Anasagasti, Ander; Barandika, Olatz; Garay-Aramburu, Gonzaga; Galdós, Marta; López de Munain, Adolfo; Irigoyen, Cristina; Ruiz-Ederra, Javier; Shah, Pravina; Seshia, Shashi

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

基于靶向汇集 DNA 测序的新方法可识别遗传性视网膜营养不良患者的新突变

Maitane Ezquerra-Inchausti, Ander Anasagasti, Olatz Barandika, Gonzaga Garay-Aramburu, Marta Galdós, Adolfo López de Munain, Cristina Irigoyen, Javier Ruiz-Ederra1

SOX2 haploinsufficiency promotes impaired vision at advanced age

SOX2单倍体功能不全会导致老年人视力受损

Moreno-Cugnon, Leire; Anasagasti, Ander; Ezquerra-Inchausti, Maitane; Izeta, Ander; de la Villa, Pedro; Ruiz-Ederra, Javier; Matheu, Ander

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.

西班牙常染色体显性遗传性视网膜色素变性患者队列中,影响剪接过程的突变发生率很高

Ezquerra-Inchausti Maitane, Barandika Olatz, Anasagasti Ander, Irigoyen Cristina, López de Munain Adolfo, Ruiz-Ederra Javier