Lv56
834 积分 2024-08-07 加入
ASTL is mutated in female infertility
4小时前
已完结
Novel biallelic ASTL variants are associated with polyspermy and female infertility: A successful live birth following ICSI treatment
4小时前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
21小时前
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
22小时前
已完结
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
22小时前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1天前
已完结
Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review
1天前
已完结
Inherited coagulation factor VII deficiency in Taiwan: Two novel F7 variants with relevant regional features in 33 patients
3天前
已完结
Structural and functional characterization of novel F7 mutations identified in Chinese factor VII‐deficient patients
3天前
已完结
Factor VII deficiency in China: Phenotype, genotype and current status of management
3天前
已完结
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