Lv21
130 积分 2025-01-09 加入
Periventricular Heterotopia and Novel FLNA Gene Variant: Clinical and Neuroimaging Clues for an Early Diagnosis
11小时前
待确认
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
6个月前
已关闭
Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing
7个月前
已完结
Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants
8个月前
已完结
A bi‐allelic REC114 loss‐of‐function variant causes meiotic arrest and nonobstructive azoospermia
8个月前
已完结
PIK3CA- Related Overgrowth Spectrum: Exploring brain growth from fetal to infant
10个月前
已完结
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
10个月前
已完结
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