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

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene

常染色体隐性遗传性先天性白内障与一种新的C10orf71人类基因中的4 bp剪接缺失突变相关。

Chograni, M; Alahdal, H M; Rejili, M

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

对突尼斯家族中无虹膜症和先天性白内障的PAX6基因进行分子分析

Chograni, Manèl; Derouiche, Kaouther; Chaabouni, Myriam; Lariani, Imen; Bouhamed, Habiba Chaabouni

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

在突尼斯患有白内障和智力障碍的家族中,编码先天性白内障并在人脑中表达的四个基因未发现突变。

Chograni, Manèl; Chaabouni, Myriam; Mâazoul, Faouzi; Bouzid, Hedi; Kraiem, Abdelhafid; Chaabouni, Habiba B Bouhamed