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110 积分 2025-01-09 加入
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
15小时前
求助中
Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing
1个月前
已完结
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants
2个月前
已完结
A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia
2个月前
已完结
PIK3CA- Related Overgrowth Spectrum: Exploring brain growth from fetal to infant
4个月前
已完结
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
4个月前
已完结
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