Lv12
58 积分 2023-08-09 加入
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants
1天前
已关闭
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
17天前
已关闭
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
21天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
21天前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
1个月前
已关闭
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
1个月前
已完结
Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties
1个月前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
1个月前
已完结
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans
1个月前
已完结
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