Lv5
960 积分 2023-08-21 加入
[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa]
23小时前
已关闭
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
29天前
已完结
The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese
30天前
已完结
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
AAMR syndrome in a 22-month-old and literature review
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
1个月前
已完结
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible
1个月前
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R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms
1个月前
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