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970 积分 2023-08-21 加入
Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture
1天前
求助中
Tuberous sclerosis complex: Clinical, genetic and 7T-MRI neuroimaging findings
6天前
已完结
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
7天前
已完结
[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism]
7个月前
已关闭
[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa]
8个月前
已关闭
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
9个月前
已完结
The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese
9个月前
已完结
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]
9个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
9个月前
已完结
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