Lv1
88 积分 2024-10-25 加入
Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia
7小时前
已完结
Recurrent Cerebral Infarction Due to Moyamoya Disease Complicated With Systemic Lupus Erythematosus
29天前
已完结
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
1个月前
已完结
[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene]
2个月前
已完结
[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type II]
3个月前
已完结
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle
4个月前
已完结
Two cases of osteosarcoma occurring as second malignancy of childhood cancer
5个月前
已关闭
First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
5个月前
已完结
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
5个月前
已完结
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