Lv11
90 积分 2026-01-27 加入
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
5小时前
待确认
CARD9 mutations in patients with fungal infections: An update from the last 5 years
3天前
已完结
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment
6天前
已完结
ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease
7天前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
16天前
已完结
Cryptic Rearrangement of theKMT2AGene in a B-cell Acute Lymphoblastic Leukemia
18天前
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
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
1个月前
已完结
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
1个月前
已完结
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome
1个月前
已完结
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