Lv41
736 积分 2025-11-20 加入
Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis
1小时前
已完结
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
1个月前
已关闭
Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program
1个月前
已完结
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
1个月前
已完结
Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade
1个月前
已关闭
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
2个月前
已关闭
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population
3个月前
已完结
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China
3个月前
已完结
Reevaluation of Enlarged Vestibular Aqueduct
4个月前
已完结
Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study
4个月前
已完结
Phase-controlled growth of 2D crystals of the MB2T4 family via a flux-assisted method
6个月前
已采纳
Natural product honokiol exerts anti-methicillin resistant Staphylococcus aureus infection activity by targeting pyruvate kinase to inhibit glucose metabolism
9个月前
已采纳
High thermal reliability study of copper-based β -Ga 2 O 3 Schottky diodes with thin Al 2 O 3 insertion layers
9个月前
已采纳
Electrochemical sensors for identify key therapeutic target genes in coronary heart disease treatment with Danlou tablets: Molecular mechanism of CRIP1 protein
9个月前
已采纳
Electrical-magnetic-mechanical coupling stress of bonding wires in IGBT packaging modules
9个月前
已采纳
Rapid determination of urinary oxalic acid concentration aids in the screening and monitoring of kidney diseases: An LC-ESI-MS/MS method that does not require complex derivatization, acidification treatment, or large-volume sample consumption
9个月前
已采纳
An extraction-free, smartphone-based approach for measuring the antioxidant capacity of emulsions using a paper-based DPPH assay
9个月前
已采纳
Development of an origami paper-based electrochemical sensor using N-doped graphene for simultaneous detection of Cd(II), Pb(II), and Hg(II) in water
9个月前
已采纳
Target-driven MNAzyme combined with molecular gating of nucleic acids for multiple miRNAs electrochemical detection
9个月前
已采纳
Facile and rapid one-step mass production of flexible 3D porous graphene nanozyme electrode via direct laser-writing for intelligent evaluation of fish freshness
9个月前
已采纳
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