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170 积分 2024-11-21 加入
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies
13天前
已完结
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
15天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome
27天前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
1个月前
已完结
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature
1个月前
已完结
The pleiotropic effects of PCSK9 in cardiovascular diseases beyond cholesterol metabolism
1个月前
已完结
Lung disease caused by ABCA3 mutations
2个月前
已完结
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation
2个月前
已完结
Targeted sequencing as a tool for genetic mutations screening for familial hypercholesterolaemia patients in Malaysian population
3个月前
已完结
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