Lv1
50 积分 2025-03-17 加入
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
2天前
已完结
Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella
3天前
已完结
Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy
4天前
已完结
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
1个月前
已完结
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
1个月前
已完结
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