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

The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants

26名受MYO15A变异影响的听力损失患者的临床和遗传谱

Morovvati, Saeid; Sarband, Mina Mohammadi; Doostmohammadi, Samaneh; Rayat, Sima; Emamdjomeh, Hessamaldin; Farhadi, Mohammad; Asghari, Alimohamad; Garshasbi, Masoud; Falah, Masoumeh

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

伊朗一个血亲家族中出现了小头畸形、肌张力低下和多种脑异常等神经发育障碍,这与 PRUNE1 基因中的纯合起始缺失变异有关

Mehdi Agha Gholizadeh, Mina Mohammadi-Sarband, Fatemeh Fardanesh, Masoud Garshasbi