Lv5
834 积分 2024-08-07 加入
ASTL is mutated in female infertility
1天前
已完结
Novel biallelic ASTL variants are associated with polyspermy and female infertility: A successful live birth following ICSI treatment
1天前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
1天前
已完结
Mutation Analysis of <i>PKD1</i> and <i>PKD2</i> Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement
1天前
已完结
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
1天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2天前
已完结
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
2天前
已完结
Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients
4天前
已完结
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII‐deficient patients
4天前
已完结
Factor VII deficiency in China: Phenotype, genotype and current status of management
4天前
已完结
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