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

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

四种遗传综合征与先天性角化不良症有明显的重叠,这给临床诊断带来了困难

Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patıroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderjeet

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

人类端粒酶疾病中的三等位基因和表观遗传样遗传

Collopy Laura C, Walne Amanda J, Cardoso Shirleny, de la Fuente Josu, Mohamed Mahfuzah, Toriello Helga, Tamary Hannah, Ling Adam J Y V, Lloyd Timothy, Kassam Rebecca, Tummala Hemanth, Vulliamy Thomas J, Dokal Inderjeet