Lv5
840 积分 2024-02-23 加入
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Prevalence and genotype–phenotype correlations of GBA‐related Parkinson disease in a large Chinese cohort
26天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
27天前
已完结
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly
1个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
1个月前
已完结
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients
1个月前
已关闭
Rare case of Netherton syndrome with generalized lentigines
2个月前
已完结
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain
2个月前
已完结
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
2个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
2个月前
已完结
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