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

Enhanced Exome Sequencing Improves the Genetic Diagnosis of Deafblindness

增强型外显子组测序提高了聋盲症的基因诊断率

Cifuentes, Guadalupe A; Diñeiro, Marta; Huete, Alicia R; Capín, Raquel; Santiago, Adrián; Vargas, Alberto A R; Carrero, Dido; Biscay, Julien; López Martínez, Esther; Aguiar, Beatriz; Urbaniak, María; Fernández-Vega, Beatriz; Costales, María; González-Aguado, Rocío; Cabanillas, Rubén; Cadiñanos, Juan

A Novel Recurrent 200 kb CRYL1 Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain

西班牙西北部患者中一种新型的复发性 200 kb CRYL1 缺失是 DFNB1A 听力损失的根本原因

Cifuentes, Guadalupe A; Diñeiro, Marta; Huete, Alicia R; Capín, Raquel; Santiago, Adrián; Vargas, Alberto A R; Carrero, Dido; Martínez, Esther López; Aguiar, Beatriz; Fischer, Anja; Rad, Roland; Costales, María; Cabanillas, Rubén; Cadiñanos, Juan

Differential mechanisms of tolerance to extreme environmental conditions in tardigrades.

水熊虫对极端环境条件的耐受机制差异

Carrero Dido, Pérez-Silva José G, Quesada Víctor, López-Otín Carlos

Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

早衰症的特征:来自小鼠和重编程细胞的启示

Carrero, Dido; Soria-Valles, Clara; López-Otín, Carlos