Lv1
16 积分 2025-11-25 加入
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations
11天前
已完结
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
13天前
已完结
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants
14天前
已完结
BRAF Deletion in Adult Patients with Langerhans Cell Histiocytosis Correlates with Multisystem Disease and Poor Outcomes
19天前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
1个月前
已完结
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability
1个月前
已完结
Copy Number Variations in Female Infertility in China
1个月前
已完结
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes
1个月前
已完结
Identification and molecular characterization of two novel chromosomal deletions associated with autism
2个月前
已完结
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