Lv1
46 积分 2025-11-25 加入
Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature
26天前
已关闭
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations
2个月前
已完结
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
2个月前
已完结
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants
2个月前
已完结
BRAF Deletion in Adult Patients with Langerhans Cell Histiocytosis Correlates with Multisystem Disease and Poor Outcomes
2个月前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
2个月前
已完结
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability
2个月前
已完结
Copy Number Variations in Female Infertility in China
3个月前
已完结
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes
3个月前
已完结
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