Lv5
1138 积分 2025-01-14 加入
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss
13小时前
待确认
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
1天前
待确认
Oxidative stress impairs endocytosis of the scavenger receptor class A
1天前
待确认
Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex
6天前
已完结
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease
6天前
已完结
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
6天前
已完结
Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype
9天前
已关闭
A Deleterious Variant in MBOAT7 Causes Intellectual Disability in an Iranian Family: An Example of Reassignment of Variants of Uncertain Significance
13天前
已完结
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes
15天前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
15天前
已完结
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