Lv22
148 积分 2025-05-12 加入
Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders
5天前
已完结
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
10天前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
11天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
11天前
已完结
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
1个月前
已完结
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
1个月前
已完结
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants
1个月前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1个月前
已完结
[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency]
1个月前
已完结
Novel Mutation of Human DNA Polymerase γ Associated with Mitochondrial Toxicity Induced by Anti‐HIV Treatment
2个月前
已完结
皖公网安备34019202002308
